{"Name":"Spondyloepimetaphyseal dysplasia with multiple dislocations","DiseaseID__c":"GARD:0009866","id":9866,"encodedName":"spondyloepimetaphyseal-dysplasia-with-multiple-dislocations","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia with multiple dislocations","Xref_IDs__c":"766820007; C125419; C1863732; C535784; DOID:0112199; MEDGEN:350960; MONDO:0011335; OMIM:603546; ORPHA:93360","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:0011335","Disease_Description__c":"A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.","GARD_Name__c":"Spondyloepimetaphyseal dysplasia with multiple dislocations","GARD_Synonym__c":"semd-md; semdjl2; spondyloepimetaphyseal dysplasia with joint laxicity, hall type; spondyloepimetaphyseal dysplasia with joint laxity hall type; spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type; spondyloepimetaphyseal dysplasia with joint laxity type 2; spondyloepimetaphyseal dysplasia with joint laxity, hall type; spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with joint laxity, type 2; spondyloepimetaphyseal dysplasia with multiple dislocations hall type; spondyloepimetaphyseal dysplasia with multiple dislocations, hall type","Curated_Disease_Description_Source__c":"MONDO:0011335","Curated_Disease_Description__c":"A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.","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:93360","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011335","ORPHANET_ID__c":"ORPHA:93360","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepimetafisaria con laxitud articular tipo leptodactilia","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia espondiloepimetafisaria con laxitud articular tipo leptodactilia","Spanish_GARD_Synonym__c":"displasia espondiloepimetafisaria con laxitud articular tipo 2; displasia espondiloepimetafisaria con laxitud articular tipo hall; displasia espondiloepimetafisaria con luxaciones múltiples tipo hall; semd-md; semdjl2","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 disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.","Curated_Disease_Description_Source__c":"MONDO:0011335","GARD_Synonym__c":"semd-md; semdjl2; spondyloepimetaphyseal dysplasia with joint laxicity, hall type; spondyloepimetaphyseal dysplasia with joint laxity hall type; spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type; spondyloepimetaphyseal dysplasia with joint laxity type 2; spondyloepimetaphyseal dysplasia with joint laxity, hall type; spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with joint laxity, type 2; spondyloepimetaphyseal dysplasia with multiple dislocations hall type; spondyloepimetaphyseal dysplasia with multiple dislocations, hall type","Name":"Spondyloepimetaphyseal dysplasia with multiple dislocations","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":"Neonatal","Provided_By__c":"ORPHA:93360"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93360"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1863732"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009866","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/603546","Source__c":"C1863732; MONDO:0011335; ORPHA:93360","Xref__c":"OMIM:603546"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125419","Source__c":"C1863732; MONDO:0011335","Xref__c":"C125419"},{"URL__c":"https://www.orpha.net/en/disease/detail/93360","Source__c":"C1863732; MONDO:0011335; ORPHA:93360","Xref__c":"ORPHA:93360"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863732","Source__c":"C1863732","Xref__c":"C1863732"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535784","Source__c":"MONDO:0011335","Xref__c":"C535784"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350960","Source__c":"C1863732","Xref__c":"MEDGEN:350960"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766820007","Source__c":"C1863732; MONDO:0011335","Xref__c":"766820007"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112199","Source__c":"MONDO:0011335","Xref__c":"DOID:0112199"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011335","Source__c":"GARD:0009866","Xref__c":"MONDO:0011335"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KIF22","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93360","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:93360","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","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:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence (due to failure to form) or underdevelopment of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009815","HPO_Synonym__c":"Absent/small extremities; Absent/underdeveloped extremities; Short or absent limbs; Shortened limbs","HPO_Name__c":"Aplasia/hypoplasia of the extremities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001832","HPO_Synonym__c":"Abnormality of the long bone of foot","HPO_Name__c":"Abnormal metatarsal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002970","HPO_Synonym__c":"Genu vara; Genua vara; Outward bow-leggedness; Outward bowing at knees","HPO_Name__c":"Genu varum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","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:93360","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Partial dislocation of the head of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003048","HPO_Synonym__c":"Radial subluxation; Radial-head subluxation","HPO_Name__c":"Radial head subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal curvature of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010674","HPO_Synonym__c":"Abnormal curve of the backbone; Abnormal curve of the spine; Abnormal curving of the spine; Abnormality of the curvature of the vertebral column; Curvature of spine; Curved spine","HPO_Name__c":"Abnormal curvature of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased width of the metacarpal bones (that is, reduced diameter).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006236","HPO_Synonym__c":"Slender long bones of hand","HPO_Name__c":"Slender metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002651","HPO_Name__c":"Spondyloepimetaphyseal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","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:93360","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001238","HPO_Synonym__c":"Narrow fingers; 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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:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040064","HPO_Synonym__c":"Abnormal limbs; Abnormality of limbs; Limb anomaly","HPO_Name__c":"Abnormality of limbs","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","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:93360","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:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006014","HPO_Synonym__c":"Abnormally shaped wrist bones","HPO_Name__c":"Abnormally shaped carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002663","HPO_Synonym__c":"Delayed epiphyseal maturation; 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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:93360","HPO_Frequency__c":"Frequent (30-79%)","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:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008857","HPO_Synonym__c":"Short-trunk dwarfism identifiable at birth","HPO_Name__c":"Neonatal short-trunk short stature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A general term describing features characterized by abnormal development of bones and connective tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002652","HPO_Name__c":"Skeletal dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93360","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:93360","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001602","HPO_Name__c":"Laryngeal stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["semd-md"," semdjl2"," spondyloepimetaphyseal dysplasia with joint laxicity, hall type"," spondyloepimetaphyseal dysplasia with joint laxity hall type"," spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type"," spondyloepimetaphyseal dysplasia with joint laxity type 2"," spondyloepimetaphyseal dysplasia with joint laxity, hall type"," spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"," spondyloepimetaphyseal dysplasia with joint laxity, type 2"," spondyloepimetaphyseal dysplasia with multiple dislocations hall type"," spondyloepimetaphyseal dysplasia with multiple dislocations, hall type"]}