{"Name":"Spondyloepimetaphyseal dysplasia with joint laxity, type 3","DiseaseID__c":"GARD:0016348","id":16348,"encodedName":"spondyloepimetaphyseal-dysplasia-with-joint-laxity-type-3","IsDeleted":false,"Disease_Name_Full__c":"Spondyloepimetaphyseal dysplasia with joint laxity, type 3","Xref_IDs__c":"C5193073; DOID:0112200; MEDGEN:1677378; MONDO:0032724; OMIM:618395; ORPHA:642085","USA_Estimate__c":null,"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":null,"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":"OMIM:618395","Disease_Description__c":"Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones ({2:Girisha et al., 2016}).\\n\\nFor a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 ({271640}).","GARD_Name__c":"Spondyloepimetaphyseal dysplasia with joint laxity, type 3","GARD_Synonym__c":"semdjl3; semdjl3 - spondyloepimetaphyseal dysplasia with joint laxity type 3; spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type; spondyloepimetaphyseal dysplasia with joint laxity type 3; spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Spondyloepimetaphyseal dysplasia with joint laxity type 3 (SEMDJL3) is a rare genetic disorder. It affects the bones and joints. People with SEMDJL3 are born with dislocations of the hips and knees. Symptoms may also include very loose joints, a curved spine (scoliosis), and slender bones in the hands and feet. SEMDJL3 can cause delayed bone growth and poorly developed wrist and ankle bones. This condition is caused by a change in the EXOC6B gene. It is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"OMIM:618395","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0032724","ORPHANET_ID__c":"ORPHA:642085","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia espondiloepimetafisaria con laxitud articular asociada a exoc6b","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"displasia espondiloepimetafisaria con laxitud articular asociada a exoc6b","Spanish_GARD_Synonym__c":"displasia espondiloepimetafisaria con laxitud articular tipo 3; exoc6b-semd-jl; semd-jl3; semdjl3","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":"Spondyloepimetaphyseal dysplasia with joint laxity type 3 (SEMDJL3) is a rare genetic disorder. It affects the bones and joints. People with SEMDJL3 are born with dislocations of the hips and knees. Symptoms may also include very loose joints, a curved spine (scoliosis), and slender bones in the hands and feet. SEMDJL3 can cause delayed bone growth and poorly developed wrist and ankle bones. This condition is caused by a change in the EXOC6B gene. It is inherited in an autosomal recessive pattern. This means that two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"semdjl3; semdjl3 - spondyloepimetaphyseal dysplasia with joint laxity type 3; spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type; spondyloepimetaphyseal dysplasia with joint laxity type 3; spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type","Name":"Spondyloepimetaphyseal dysplasia with joint laxity, type 3","estimateUsa":""}],"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":"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:642085"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:642085"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK592183","Source__c":"Gene Review","Xref__c":"NBK592183"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112200","Source__c":"MONDO:0032724","Xref__c":"DOID:0112200"},{"URL__c":"https://www.orpha.net/en/disease/detail/642085","Source__c":"MONDO:0032724","Xref__c":"ORPHA:642085"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1677378","Source__c":"C5193073","Xref__c":"MEDGEN:1677378"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5193073","Source__c":"C5193073","Xref__c":"C5193073"},{"URL__c":"https://www.omim.org/entry/618395","Source__c":"C5193073; MONDO:0032724; ORPHA:642085","Xref__c":"OMIM:618395"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0032724","Source__c":"GARD:0016348","Xref__c":"MONDO:0032724"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1286834000","Source__c":"C5193073","Xref__c":"1286834000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EXOC6B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:618395","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":"OMIM:618395","Feature__r":{"HPO_Description__c":"The gradual reduction in girth of the finger from proximal to distal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001182","HPO_Synonym__c":"Distally tapering fingers; Tapered finger; Tapered fingertips; Tapering fingers","HPO_Name__c":"Tapered finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002999","HPO_Synonym__c":"Dislocated kneecap; Dislocated patellae; Dislocation of patella","HPO_Name__c":"Patellar dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008450","HPO_Synonym__c":"Interpedicular narrowing; Narrow interpedicular space; Narrow interpediculate distances; Narrowing of interpediculate distances","HPO_Name__c":"Narrow vertebral interpedicular distance","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An irregular surface of the vertebral end plates, which are normally relatively smooth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003301","HPO_Synonym__c":"end-plate irregularities; endplate irregularities; endplate irregularity; Irregular end plates; Irregular endplates; irregular vertebral plates; vertebral endplate irregularity","HPO_Name__c":"Irregular vertebral endplates","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","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":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:618395","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000268","HPO_Synonym__c":"Long, narrow head; Tall and narrow skull","HPO_Name__c":"Dolichocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","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":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004976","HPO_Synonym__c":"Dislocations of the knees; Knee dislocations","HPO_Name__c":"Knee dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of one or more carpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001498","HPO_Synonym__c":"Hypoplasia of carpal bones; Hypoplastic carpal bones; Small carpal bones; Small carpals","HPO_Name__c":"Carpal bone hypoplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","Feature__r":{"HPO_Description__c":"Underdevelopment of the ulna.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003022","HPO_Synonym__c":"Hypoplastic ulna; Short ulna; Short ulnae; Ulnar hypoplasia; Underdeveloped inner large forearm bone; Underdeveloped ulna","HPO_Name__c":"Hypoplasia of the ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","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":"OMIM:618395","Feature__r":{"HPO_Description__c":"Ribs with a reduced diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000883","HPO_Synonym__c":"Slender ribs; Thin ribs","HPO_Name__c":"Thin ribs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","Feature__r":{"HPO_Description__c":"Dislocation of many joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012095","HPO_Name__c":"Multiple joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","Feature__r":{"HPO_Description__c":"Diminished length of the neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000470","HPO_Synonym__c":"Decreased length of neck; Short neck","HPO_Name__c":"Short neck","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:618395","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":"OMIM:618395","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":"OMIM:618395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ossification of carpal bones occurs later than age-adjusted norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001216","HPO_Synonym__c":"Carpal delayed ossification; Delayed carpal bone age; Delayed carpal ossification; Delayed maturation of carpal bones","HPO_Name__c":"Delayed ossification of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["semdjl3"," semdjl3 - spondyloepimetaphyseal dysplasia with joint laxity type 3"," spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type"," spondyloepimetaphyseal dysplasia with joint laxity type 3"," spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type"]}