{"Name":"Acropectorovertebral dysplasia","DiseaseID__c":"GARD:0000512","id":512,"encodedName":"acropectorovertebral-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Acropectorovertebral dysplasia","Xref_IDs__c":"720457000; C1863307; C566319; MEDGEN:400262; MONDO:0007058; OMIM:102510; ORPHA:957","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007058","Disease_Description__c":"A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).","GARD_Name__c":"Acropectorovertebral dysplasia","GARD_Synonym__c":"f syndrome","Curated_Disease_Description_Source__c":"MONDO:0007058","Curated_Disease_Description__c":"A rare genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). Soft tissue syndactyly, dental hypoplasia/dysplasia, wide alveolar ridge and high and narrow palate have also been reported in some patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:957","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007058","ORPHANET_ID__c":"ORPHA:957","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia acropectorovertebral","Spanish_Description_Source__c":"ORPHA:957","Spanish_Description__c":"Es una displasia esquelética poco frecuente caracterizada por la fusión de los huesos del carpo y el tarso, con anomalías complejas de los dedos de manos y pies (polidactilia preaxial de manos y/o pies, sindactilia de los dedos de manos y pies, hipoplasia y disgenesia de los huesos metatarsianos).","Spanish_Disease_Name__c":"displasia acropectorovertebral","Spanish_GARD_Synonym__c":"síndrome f","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 genetic skeletal dysplasia characterized by carpal and tarsal synostoses (synostoses between capitate and hamate, and between talus and navicular are always present, other carpal and tarsal bones are sometimes incorporated into the fusion), syndactyly between the first and second fingers, hypodactyly and polydactyly of feet and acral defects that may involve the sternum and the lumbosacral spine (including prominent sternum with variable pectus excavatum and lumbosacral spina bifida occulta). Soft tissue syndactyly, dental hypoplasia/dysplasia, wide alveolar ridge and high and narrow palate have also been reported in some patients.","Curated_Disease_Description_Source__c":"MONDO:0007058","GARD_Synonym__c":"f syndrome","Name":"Acropectorovertebral dysplasia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory 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:957"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:957"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/957","Source__c":"C1863307; MONDO:0007058; ORPHA:957","Xref__c":"ORPHA:957"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566319","Source__c":"MONDO:0007058","Xref__c":"C566319"},{"URL__c":"https://www.omim.org/entry/102510","Source__c":"C1863307; MONDO:0007058; ORPHA:957","Xref__c":"OMIM:102510"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1863307","Source__c":"C1863307","Xref__c":"C1863307"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400262","Source__c":"C1863307","Xref__c":"MEDGEN:400262"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720457000","Source__c":"C1863307; MONDO:0007058","Xref__c":"720457000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007058","Source__c":"GARD:0000512","Xref__c":"MONDO:0007058"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","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:957","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:957","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Occasional (5-29%)","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:957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased thumb width without increased dorso-ventral dimension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011304","HPO_Synonym__c":"Broad phalanges of the thumb; Broad thumb; Broad thumbs; Wide/broad thumb; Wide/broad thumb phalanges","HPO_Name__c":"Broad thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\\"bony\\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\\"Symphalangism\\\".","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006101","HPO_Synonym__c":"Partial syndactyly","HPO_Name__c":"Finger syndactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Occasional (5-29%)","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:957","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002414","HPO_Name__c":"Spina bifida","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001199","HPO_Synonym__c":"Accessory phalanx of the thumb; Digitalized thumb; Finger-like thumb; Triphalangeal thumbs; Triphalangy of thumb","HPO_Name__c":"Triphalangeal thumb","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:957","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009882","HPO_Synonym__c":"Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand","HPO_Name__c":"Short distal phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["f syndrome"]}