{"Name":"Osteopathia striata with cranial sclerosis","DiseaseID__c":"GARD:0004148","id":4148,"encodedName":"osteopathia-striata-with-cranial-sclerosis","IsDeleted":false,"Disease_Name_Full__c":"Osteopathia striata with cranial sclerosis","Xref_IDs__c":"254129003; C0432268; C536053; DOID:0060886; MEDGEN:96590; MONDO:0010310; NBK569515; OMIM:300373; ORPHA:2780","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010310","Disease_Description__c":"Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.","GARD_Name__c":"Osteopathia striata with cranial sclerosis","GARD_Synonym__c":"hyperostosis generalisata with striations; oscs; osteopathia striata with cranial sclerosis, x-linked dominant; osteopathia striata-cranial sclerosis syndrome; robinow-unger syndrome","Curated_Disease_Description_Source__c":"GARD:0004148","Curated_Disease_Description__c":"Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and cleft palate. Some people with OSCS may also have developmental delay, hearing loss, heart defects, and breathing and feeding difficulties. Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene and is inherited in an X-linked dominant pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:2780","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010310","ORPHANET_ID__c":"ORPHA:2780","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de osteopatía estriada-esclerosis craneal","Spanish_Description_Source__c":"ORPHA:2780","Spanish_Description__c":"La osteopatía estriada - esclerosis craneal (OS-CS) es una displasia ósea caracterizada por estriaciones longitudinales de la metáfisis de los huesos largos, esclerosis de los huesos craneofaciales, macrocefalia, paladar hendido y pérdida de audición.","Spanish_Disease_Name__c":"síndrome de osteopatía estriada-esclerosis craneal","Spanish_GARD_Synonym__c":null,"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":"Osteopathia striata with cranial sclerosis (OSCS) causes the bones to become unusually hard and thick. The severity of the condition and the symptoms vary significantly from person to person, even within the same family. Features of the condition are generally present at birth. Symptoms may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, and cleft palate. Some people with OSCS may also have developmental delay, hearing loss, heart defects, and breathing and feeding difficulties. Osteopathia striata cranial sclerosis is caused by variants in the AMER1 gene and is inherited in an X-linked dominant pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.","Curated_Disease_Description_Source__c":"GARD:0004148","GARD_Synonym__c":"hyperostosis generalisata with striations; oscs; osteopathia striata with cranial sclerosis, x-linked dominant; osteopathia striata-cranial sclerosis syndrome; robinow-unger syndrome","Name":"Osteopathia striata with cranial sclerosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological 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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2780"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2780"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2780"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0432268"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004148","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK569515","Source__c":"Gene Review","Xref__c":"NBK569515"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96590","Source__c":"C0432268","Xref__c":"MEDGEN:96590"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432268","Source__c":"C0432268","Xref__c":"C0432268"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536053","Source__c":"MONDO:0010310","Xref__c":"C536053"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060886","Source__c":"MONDO:0010310","Xref__c":"DOID:0060886"},{"URL__c":"https://www.orpha.net/en/disease/detail/2780","Source__c":"C0432268; MONDO:0010310; ORPHA:2780","Xref__c":"ORPHA:2780"},{"URL__c":"https://www.omim.org/entry/300373","Source__c":"C0432268; MONDO:0010310; ORPHA:2780","Xref__c":"OMIM:300373"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254129003","Source__c":"C0432268; MONDO:0010310","Xref__c":"254129003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010310","Source__c":"GARD:0004148","Xref__c":"MONDO:0010310"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AMER1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/amer1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of symmetry between the left and right halves of the thorax.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001555","HPO_Synonym__c":"Asymmetric chest","HPO_Name__c":"Asymmetry of the thorax","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a stenosis (narrowing) of the aortic valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001650","HPO_Synonym__c":"Aortic stenosis; Narrowing of aortic valve; Valvular aortic stenosis","HPO_Name__c":"Aortic valve stenosis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000278","HPO_Synonym__c":"Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw","HPO_Name__c":"Retrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000358","HPO_Synonym__c":"Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears","HPO_Name__c":"Posteriorly rotated ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005465","HPO_Synonym__c":"Enlargement of the facial bones; Excessive growth of facial bones; Excessive growth of facial skeleton; Hyperostosis of facial bones; Hyperostosis of facial skeleton; Hypertrophy of the facial bones; Increase in size of the facial bones; Overgrowth of facial bones; Overgrowth of facial skeleton; Overgrowth of the facial bones","HPO_Name__c":"Facial hyperostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally thick calvaria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002684","HPO_Synonym__c":"Calvarial thickening; Calvarium thickened; Increased calvarial thickness; Increased thickness of calvaria; Increased thickness of calvarium; Increased thickness of cranial vault; Increased thickness of skull cap; Thick calvaria; Thick calvarium; Thickened calvarium; Thickened cranial vault; Thickened cranium; Thickened skull cap; Thickening of the calvaria","HPO_Name__c":"Thickened calvaria","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","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:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased size of the ilium ala.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008818","HPO_Synonym__c":"Large iliac wings","HPO_Name__c":"Large iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000176","HPO_Synonym__c":"Partial thickness cleft hard palate","HPO_Name__c":"Submucous cleft hard palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010529","HPO_Synonym__c":"Echoing another person's speech; Echologia; Echophrasia; Repeated speech","HPO_Name__c":"Echolalia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000684","HPO_Synonym__c":"Delayed dental development; Delayed dental eruption; Delayed eruption; Delayed eruption of teeth; Delayed teeth eruption; Delayed tooth eruption; Eruption, delayed; Late eruption of teeth; Late tooth eruption","HPO_Name__c":"Delayed eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001680","HPO_Synonym__c":"Aortic coarctation; Coarctation of the aorta; Narrowing of aorta; Narrowing of the aorta","HPO_Name__c":"Coarctation of aorta","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000405","HPO_Synonym__c":"Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive","HPO_Name__c":"Conductive hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000270","HPO_Synonym__c":"Broad late closing cranial sutures; Delayed closure of fontanel; Delayed closure of fontanelles; Delayed closure of fontanels; Delayed closure of the fontanelles; Delayed cranial suture closure; Delayed fontanel closure; Delayed fontanelle closure; Late closing fontanelles; Late closure of fontanelle; Late-closing fontanelle; Open sutures","HPO_Name__c":"Delayed cranial suture closure","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003298","HPO_Synonym__c":"Hidden spina bifida","HPO_Name__c":"Spina bifida occulta","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced convexity of the occiput (posterior part of skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005469","HPO_Synonym__c":"Flat posterior cranium; Posterior flattening of the skull","HPO_Name__c":"Flat occiput","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003307","HPO_Synonym__c":"Lordosis; Prominent swayback","HPO_Name__c":"Hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008808","HPO_Synonym__c":"High iliac wings; Narrow, high iliac wings","HPO_Name__c":"High iliac wing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000239","HPO_Synonym__c":"Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles","HPO_Name__c":"Large fontanelles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","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:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011002","HPO_Synonym__c":"Harder, denser, fracture-prone bones","HPO_Name__c":"Osteopetrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","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:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002300","HPO_Synonym__c":"Inability to speak; Muteness","HPO_Name__c":"Mutism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","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:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003510","HPO_Synonym__c":"Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe","HPO_Name__c":"Severe short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002381","HPO_Synonym__c":"Difficulty finding words; Losing words; Loss of words","HPO_Name__c":"Aphasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100670","HPO_Synonym__c":"Coarse trabeculation at metaphyses; Rough bone trabeculation; Rough trabeculation of bone","HPO_Name__c":"Coarse metaphyseal trabecularization","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2780","HPO_Frequency__c":"Frequent (30-79%)","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:2780","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["hyperostosis generalisata with striations"," oscs"," osteopathia striata with cranial sclerosis, x-linked dominant"," osteopathia striata-cranial sclerosis syndrome"," robinow-unger syndrome"]}