Tetramelic monodactyly

MedGen UID:: 349989
•Concept ID:: C1861233
•: Congenital Abnormality

Synonyms:	Sommer-Hines syndrome; Tetramelic monodactyly with autosomal dominant inheritance
SNOMED CT:	Tetramelic monodactyly (770945001); Sommer Hines syndrome (770945001)
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:0008544
OMIM®:	187510
Orphanet:	ORPHA2564

Definition

A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. [from SNOMEDCT_US]

Clinical features

From HPO

Split foot

MedGen UID:: 140919
•Concept ID:: C0432028
•: Congenital Abnormality

A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.

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Split hand

MedGen UID:: 397570
•Concept ID:: C2699510
•: Congenital Abnormality

A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.

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Foot monodactyly