{"Name":"Brachydactyly type C","DiseaseID__c":"GARD:0000986","id":986,"encodedName":"brachydactyly-type-c","IsDeleted":false,"Disease_Name_Full__c":"Brachydactyly type C","Xref_IDs__c":"C1862103; C537093; DOID:0110970; MEDGEN:350590; MONDO:0007221; OMIM:113100; ORPHA:93384","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0000986","Disease_Description__c":"Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes in the GDF5 gene and is inherited in an autosomal dominant manner.","GARD_Name__c":"Brachydactyly type C","GARD_Synonym__c":"bdc; type c brachydactyly","Curated_Disease_Description_Source__c":"GARD:0000986","Curated_Disease_Description__c":"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.","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":"ORPHA:93384","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007221","ORPHANET_ID__c":"ORPHA:93384","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Braquidactilia tipo c","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"braquidactilia tipo c","Spanish_GARD_Synonym__c":null,"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":"A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.","Curated_Disease_Description_Source__c":"GARD:0000986","GARD_Synonym__c":"bdc; type c brachydactyly","Name":"Brachydactyly type C","estimateUsa":""}],"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":"Neonatal","Provided_By__c":"ORPHA:93384"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:93384"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862103"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000986","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110970","Source__c":"MONDO:0007221","Xref__c":"DOID:0110970"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537093","Source__c":"MONDO:0007221","Xref__c":"C537093"},{"URL__c":"https://www.orpha.net/en/disease/detail/93384","Source__c":"C1862103; MONDO:0007221; ORPHA:93384","Xref__c":"ORPHA:93384"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862103","Source__c":"C1862103","Xref__c":"C1862103"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350590","Source__c":"C1862103","Xref__c":"MEDGEN:350590"},{"URL__c":"https://www.omim.org/entry/113100","Source__c":"C1862103; MONDO:0007221; ORPHA:93384","Xref__c":"OMIM:113100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007221","Source__c":"GARD:0000986","Xref__c":"MONDO:0007221"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009373","Source__c":"C1862103","Xref__c":"HP:0009373"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009373","HPO_Name__c":"Type C brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010026","HPO_Synonym__c":"Absent/small 1st long bone of hand; Absent/underdeveloped 1st long bone of hand","HPO_Name__c":"Aplasia/Hypoplasia of the 1st metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010579","HPO_Synonym__c":"Cone-shaped end part of bone; Cone-shaped epiphyses; Coned epiphyses","HPO_Name__c":"Cone-shaped epiphysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009465","HPO_Synonym__c":"Finger bends toward pinky; Ulnar Drift","HPO_Name__c":"Ulnar deviation of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001231","HPO_Synonym__c":"Abnormal fingernails; Abnormality of the fingernails","HPO_Name__c":"Abnormal fingernail morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009606","HPO_Synonym__c":"Complete duplication of outermost bone of the thumb","HPO_Name__c":"Complete duplication of distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Occasional (5-29%)","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:93384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010508","HPO_Name__c":"Metatarsus valgus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004209","HPO_Synonym__c":"Bilateral fifth digit clinodactyly; Bilateral fifth finger clinodactyly; Clinodactyly of fifth digit; Clinodactyly of the little finger; Fifth finger clinodactyly; Permanent curving of the pinkie finger","HPO_Name__c":"Clinodactyly of the 5th finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009495","HPO_Synonym__c":"Accessory index finger epiphysis","HPO_Name__c":"Pseudoepiphysis of the 2nd finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010743","HPO_Synonym__c":"Hypoplasia of the metatarsal bones; Hypoplastic metatarsals; Short long bone of foot; Short metatarsal bone; Short metatarsals; Shortened metatarsals","HPO_Name__c":"Short metatarsal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:93384","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009684","HPO_Synonym__c":"Speckled calcifications in the end part of the outermost thumb bone","HPO_Name__c":"Stippling of the epiphysis of the distal phalanx of the thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["bdc"," type c brachydactyly"]}