{"Name":"Sponastrime dysplasia","DiseaseID__c":"GARD:0004970","id":4970,"encodedName":"sponastrime-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Sponastrime dysplasia","Xref_IDs__c":"389161008; C129031; C1300260; C535786; DOID:5684; MEDGEN:266247; MONDO:0010068; OMIM:271510; ORPHA:93357","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010068","Disease_Description__c":"A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.","GARD_Name__c":"Sponastrime dysplasia","GARD_Synonym__c":"spondylar and nasal alterations with striated metaphyses; spondylar and nasal alterations-striated metaphyses syndrome; spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia; spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia; spondyloepimetaphyseal dysplasia, sponastrime type","Curated_Disease_Description_Source__c":"MONDO:0010068","Curated_Disease_Description__c":"A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:93357","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010068","ORPHANET_ID__c":"ORPHA:93357","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia sponastrime","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia sponastrime","Spanish_GARD_Synonym__c":"cambios espondilóticos y nasales con estriaciones de la displasia metafisaria (sponastrime); displasia espondilometaepifisaria tipo sponastrime","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.","Curated_Disease_Description_Source__c":"MONDO:0010068","GARD_Synonym__c":"spondylar and nasal alterations with striated metaphyses; spondylar and nasal alterations-striated metaphyses syndrome; spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia; spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia; spondyloepimetaphyseal dysplasia, sponastrime type","Name":"Sponastrime dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Kniest SED Group","Website__c":"https://ksginfo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93357"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:93357"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1300260"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004970","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535786","Source__c":"MONDO:0010068","Xref__c":"C535786"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1300260","Source__c":"C1300260","Xref__c":"C1300260"},{"URL__c":"https://www.orpha.net/en/disease/detail/93357","Source__c":"C1300260; MONDO:0010068; ORPHA:93357","Xref__c":"ORPHA:93357"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A5684","Source__c":"MONDO:0010068","Xref__c":"DOID:5684"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129031","Source__c":"C1300260; MONDO:0010068","Xref__c":"C129031"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=266247","Source__c":"C1300260","Xref__c":"MEDGEN:266247"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389161008","Source__c":"C1300260; MONDO:0010068","Xref__c":"389161008"},{"URL__c":"https://www.omim.org/entry/271510","Source__c":"C1300260; MONDO:0010068; ORPHA:93357","Xref__c":"OMIM:271510"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010068","Source__c":"GARD:0004970","Xref__c":"MONDO:0010068"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TONSL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the nasal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010941","HPO_Synonym__c":"Failure of development of the nasal bone; Lack of development of the nasal bone","HPO_Name__c":"Aplasia of the nasal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The legs angle inward, such that the knees are close together and the ankles far apart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002857","HPO_Synonym__c":"Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees","HPO_Name__c":"Genu valgum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003182","HPO_Synonym__c":"Shallow acetabula; Shallow acetabulae; Shallow acetabular fossa; Shallow acetabulum","HPO_Name__c":"Shallow acetabular fossae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001769","HPO_Synonym__c":"Broad feet; Broad foot; Wide foot","HPO_Name__c":"Broad foot","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030834","HPO_Synonym__c":"Shoulder pain","HPO_Name__c":"Shoulder pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005743","HPO_Synonym__c":"Osteochondrosis of the femoral head; Osteonecrosis of the femoral head; Perthes-like femoral head changes","HPO_Name__c":"Avascular necrosis of the capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030839","HPO_Synonym__c":"Knee pain","HPO_Name__c":"Knee pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001169","HPO_Synonym__c":"Broad hand; Broad hands; Broad palm; Wide palm","HPO_Name__c":"Broad palm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040221","HPO_Name__c":"Hypoplasia of the dental root","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003895","HPO_Synonym__c":"Flattened end part of long bone in upper arm","HPO_Name__c":"Flattened humeral epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010234","HPO_Synonym__c":"Increased bone density of end part of the hand bones; Ivory epiphyses of the fingers; Sclerotic ivory phalangeal epiphyses","HPO_Name__c":"Ivory epiphyses of the phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000691","HPO_Synonym__c":"Decreased size of tooth; Decreased width of tooth; Small teeth; Small tooth; Tooth hypoplasia; Tooth hypotrophy; Underdeveloped tooth","HPO_Name__c":"Microdontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031367","HPO_Synonym__c":"Striated metaphysis","HPO_Name__c":"Metaphyseal striations","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002761","HPO_Synonym__c":"Generalized joint laxity; Hypermobility of all joints","HPO_Name__c":"Generalized joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limited ability to straighten the arm at the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001377","HPO_Synonym__c":"Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Reduced elbow extension; Restricted elbow extension","HPO_Name__c":"Limited elbow extension","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000826","HPO_Synonym__c":"Early onset of puberty; Early puberty","HPO_Name__c":"Precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004603","HPO_Name__c":"Hyperconvex vertebral body endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction in the size or volume of epiphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010585","HPO_Synonym__c":"Small end part of bone","HPO_Name__c":"Small epiphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Short palm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004279","HPO_Synonym__c":"Short palm","HPO_Name__c":"Short palm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011800","HPO_Synonym__c":"Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface","HPO_Name__c":"Midface retrusion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002812","HPO_Name__c":"Coxa vara","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030833","HPO_Synonym__c":"Neck pain","HPO_Name__c":"Neck pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the nasal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004646","HPO_Synonym__c":"Decreased size of nasal bone; Deficiency of nasal bone; Nasal bone hypoplasia; Underdevelopment of nasal bone","HPO_Name__c":"Hypoplasia of the nasal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004586","HPO_Synonym__c":"Biconcave 'codfish' vertebrae; Biconcave vertebrae; Codfish vertebrae; Fish vertebrae; Scalloping of vertebral bodies","HPO_Name__c":"Biconcave vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Irregularity of the normally smooth surface of the metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003025","HPO_Synonym__c":"Frayed, irregular metaphyses; Frayed, irregular, metaphyses; Irregular metaphyses; Irregular wide portion of a long bone; Metaphyseal fraying; Metaphyseal irregularities","HPO_Name__c":"Metaphyseal irregularity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A difference in length or diameter between the left and right leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100559","HPO_Synonym__c":"Left and right leg differ in length or width","HPO_Name__c":"Lower limb asymmetry","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal prominence of the chin related to increased length of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000303","HPO_Synonym__c":"Big lower jaw; Big mandible; Enlarged mandible; Enlargement of mandible; Hyperplasia of lower jaw; Increased projection of lower jaw; Increased projection of mandible; Increased size of lower jaw; Large lower jaw; Large mandible; Lower jaw excess; Lower jaw hyperplasia; Macromandible; Mandible prognathism; Mandibular excess; Mandibular hyperplasia; Mandibular macrognathia; Mandibular prognathism; Prognathia; Prognathism; Prominent chin; Prominent jaw; Prominent lower jaw; Prominent mandible; Relative mandibular prognathism","HPO_Name__c":"Mandibular prognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003015","HPO_Synonym__c":"Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses","HPO_Name__c":"Flared metaphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced intensity (volume) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001621","HPO_Synonym__c":"Quiet voice; Soft voice; Weak voice","HPO_Name__c":"Weak voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001773","HPO_Synonym__c":"Hypoplastic feet; Short feet; Short foot; Small feet","HPO_Name__c":"Short foot","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001607","HPO_Name__c":"Subglottic stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the crystalline lens of the eye as a result of a developmental defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007707","HPO_Synonym__c":"Lens agenesis","HPO_Name__c":"Congenital aphakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004482","HPO_Synonym__c":"Disproportionately large head; Macrocephaly, relative; Relatively large head","HPO_Name__c":"Relative macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006336","HPO_Synonym__c":"Decreased length of dental roots; Decreased length of tooth roots; Dental root hypoplasia; Dental root hypotrophy; Rhizomicry; Root dwarfism; Short dental roots; Short tooth roots; Underdeveloped dental roots","HPO_Name__c":"Short dental root","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal flattening of the proximal epiphysis of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003370","HPO_Synonym__c":"Flat capital femoral epiphyses; Flat end part of innermost thighbone; Flat femoral capital epiphyses; Flat proximal femoral epiphyses; Flattened proximal femoral epiphyses","HPO_Name__c":"Flat capital femoral epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025492","HPO_Name__c":"Microcoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030043","HPO_Synonym__c":"Partial hip dislocation; Subluxation involving the hip joint","HPO_Name__c":"Hip subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005446","HPO_Synonym__c":"High mandibular plane angle; Steep mandibular plane angle","HPO_Name__c":"Obtuse angle of mandible","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal widening of the metaphyseal regions of long bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003016","HPO_Synonym__c":"Broad wide portion of long bone; Wide metaphyses; Widened long bone metaphyses; Widened metaphyses","HPO_Name__c":"Metaphyseal widening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008905","HPO_Synonym__c":"Disproportionately short upper portion of limb; Rhizomelic dwarfism; Rhizomelic limb shortening; Rhizomelic short limbs; Rhizomelic short stature; Rhizomelic shortening; Short stature, rhizomelic; Symmetrical rhizomelic limb shortening","HPO_Name__c":"Rhizomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption affecting the secondary dentition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000696","HPO_Synonym__c":"Delayed eruption of adult teeth; Delayed eruption of permanent teeth; Delayed eruption of secondary dentition; Delayed eruption of secondary teeth; Delayed permanent dentition","HPO_Name__c":"Delayed eruption of permanent teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003027","HPO_Synonym__c":"Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness","HPO_Name__c":"Mesomelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008873","HPO_Synonym__c":"Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism","HPO_Name__c":"Disproportionate short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006889","HPO_Synonym__c":"Intellectual disability, borderline; Mental retardation, borderline","HPO_Name__c":"Borderline intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100864","HPO_Synonym__c":"Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone","HPO_Name__c":"Short femoral neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001518","HPO_Synonym__c":"Birth weight less than 10th percentile; Low birth weight; Small for gestational age","HPO_Name__c":"Small for gestational age","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000047","HPO_Synonym__c":"Hypospadia","HPO_Name__c":"Hypospadias","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or more abnormally short long bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003026","HPO_Synonym__c":"Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones","HPO_Name__c":"Short long bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; Delayed opacification of the epiphyses; Epiphyseal ossification delay","HPO_Name__c":"Delayed epiphyseal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010740","HPO_Name__c":"Osteopathia striata","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:93357","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002308","HPO_Synonym__c":"Arnold-Chiari malformation; Cerebellar tonsillar ectopia","HPO_Name__c":"Chiari malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["spondylar and nasal alterations with striated metaphyses"," spondylar and nasal alterations-striated metaphyses syndrome"," spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia"," spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia"," spondyloepimetaphyseal dysplasia, sponastrime type"]}