{"Name":"Acromesomelic dysplasia 2B","DiseaseID__c":"GARD:0009879","id":9879,"encodedName":"acromesomelic-dysplasia-2b","IsDeleted":false,"Disease_Name_Full__c":"Acromesomelic dysplasia 2B","Xref_IDs__c":"715474004; C1856738; C537931; DOID:0050790; MEDGEN:346432; MONDO:0009231; OMIM:228900; ORPHA:2639","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":"ORPHA:2639","Disease_Description__c":"A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>).","GARD_Name__c":"Acromesomelic dysplasia 2B","GARD_Synonym__c":"aplasia of fibula co-occurrent with complex brachydactyly; du pan syndrome; fibular aplasia and complex brachydactyly; fibular aplasia-complex brachydactyly syndrome; fibular hypoplasia and complex brachydactyly","Curated_Disease_Description_Source__c":"MEDGEN:C1856738","Curated_Disease_Description__c":"Du Pan syndrome (DUPANS) is a rare acromesomelic dysplasia characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2639","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009231","ORPHANET_ID__c":"ORPHA:2639","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de aplasia del peroné-braquidactilia compleja","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de aplasia del peroné-braquidactilia compleja","Spanish_GARD_Synonym__c":"síndrome de du pan","Category_Linearization__c":"ORPHA:93890","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":"Du Pan syndrome (DUPANS) is a rare acromesomelic dysplasia characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005).","Curated_Disease_Description_Source__c":"MEDGEN:C1856738","GARD_Synonym__c":"aplasia of fibula co-occurrent with complex brachydactyly; du pan syndrome; fibular aplasia and complex brachydactyly; fibular aplasia-complex brachydactyly syndrome; fibular hypoplasia and complex brachydactyly","Name":"Acromesomelic dysplasia 2B","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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2639"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2639"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1856738"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009879","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715474004","Source__c":"C1856738; MONDO:0009231","Xref__c":"715474004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=346432","Source__c":"C1856738","Xref__c":"MEDGEN:346432"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1856738","Source__c":"C1856738","Xref__c":"C1856738"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537931","Source__c":"MONDO:0009231","Xref__c":"C537931"},{"URL__c":"https://www.orpha.net/en/disease/detail/2639","Source__c":"C1856738; MONDO:0009231; ORPHA:2639","Xref__c":"ORPHA:2639"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050790","Source__c":"MONDO:0009231","Xref__c":"DOID:0050790"},{"URL__c":"https://www.omim.org/entry/228900","Source__c":"C1856738; MONDO:0009231; ORPHA:2639","Xref__c":"OMIM:228900"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009231","Source__c":"GARD:0009879","Xref__c":"MONDO:0009231"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased width of the bony bridge of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000446","HPO_Synonym__c":"Narrow bridge of nose; Narrow nasal bridge; Narrow nasal root; Nasal Bridge, Narrow; Nasal bridge, thin","HPO_Name__c":"Narrow nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003272","HPO_Synonym__c":"Abnormality of the hip bone; Abnormality of the hips","HPO_Name__c":"Abnormal hip bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality of the tibia (shinbone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002992","HPO_Synonym__c":"Abnormality of the shankbone; Abnormality of the shinbone; Abnormality of tibia morphology","HPO_Name__c":"Abnormal tibia morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally small extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002983","HPO_Synonym__c":"Smaller or shorter than typical limbs","HPO_Name__c":"Micromelia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","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:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040071","HPO_Name__c":"Abnormal morphology of ulna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal structure of the first digit of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001172","HPO_Synonym__c":"Abnormality of the thumb; Abnormality of the thumbs; Thumb deformity","HPO_Name__c":"Abnormal thumb morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the fibula.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006492","HPO_Synonym__c":"Absent/small calf bone; Absent/underdeveloped calf bone; Fibular aplasia/hypoplasia; Hypoplastic/aplastic fibulae","HPO_Name__c":"Aplasia/Hypoplasia of the fibula","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the radius.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002818","HPO_Synonym__c":"Abnormality of the radius","HPO_Name__c":"Abnormal morphology of the radius","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2639","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["aplasia of fibula co-occurrent with complex brachydactyly"," du pan syndrome"," fibular aplasia and complex brachydactyly"," fibular aplasia-complex brachydactyly syndrome"," fibular hypoplasia and complex brachydactyly"]}