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Camptosynpolydactyly, complex(CCSPD)

MedGen UID:
375276
Concept ID:
C1843758
Congenital Abnormality
Synonyms: CAMPTOPOLYDACTYLY, DISORGANIZATION TYPE; CCSPD
 
Gene (location): BHLHA9 (17p13.3)
 
Monarch Initiative: MONDO:0011853
OMIM®: 607539

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, 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 or toes in a proximo-distal axis are referred to as "symphalangism".
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Cutaneous syndactyly
MedGen UID:
396250
Concept ID:
C1861921
Congenital Abnormality
A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Toenail dysplasia
MedGen UID:
478253
Concept ID:
C3276623
Finding
An abnormality of the development of the toenails.

Recent clinical studies

Diagnosis

Phadke SR, Kar A, Bhowmik AD, Dalal A
Am J Med Genet A 2016 Jun;170(6):1622-5. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37643. PMID: 27041388

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