Camptobrachydactyly

MedGen UID:: 349399
•Concept ID:: C1861963
•: Congenital Abnormality

Synonym:	Short foot/brachydactyly of toes, camptodactyly , brachydactyly
SNOMED CT:	Camptobrachydactyly (733045005)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007249
OMIM®:	114150
Orphanet:	ORPHA1319

Definition

An extremely rare brachydactyly syndrome with characteristics of short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. [from SNOMEDCT_US]

Clinical features

From HPO

Urinary incontinence

MedGen UID:: 22579
•Concept ID:: C0042024
•: Finding

Loss of the ability to control the urinary bladder leading to involuntary urination.

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Septate vagina

MedGen UID:: 82741
•Concept ID:: C0266411
•: Congenital Abnormality

The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.

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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".

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Hand polydactyly

MedGen UID:: 510636
•Concept ID:: C0158733
•: Congenital Abnormality

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.

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Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: Congenital Abnormality

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.

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Short toe