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Split hand-foot malformation 6(SHFM6)

MedGen UID:: 440845
•Concept ID:: C2749665
•: Disease or Syndrome

Synonyms:	ECTRODACTYLY, AUTOSOMAL RECESSIVE; Split-hand/foot malformation 6

Gene (location): Gene(s) directly associated with this condition or phenotype.	WNT10B (12q13.12)

Monarch Initiative:	MONDO:0009157
OMIM®:	225300

Definition

Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients with SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600). [from OMIM]

Clinical features

From HPO

Finger syndactyly

MedGen UID:: 65139
•Concept ID:: C0221352
•: Congenital Abnormality

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".

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Toe syndactyly

MedGen UID:: 75581
•Concept ID:: C0265660
•: Congenital Abnormality

Webbing or fusion of the 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 toes in a proximo-distal axis are referred to as "Symphalangism".

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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 oligodactyly

MedGen UID:: 923973
•Concept ID:: C4281601
•: Anatomical Abnormality

A developmental defect resulting in the presence of fewer than the normal number of toes.

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Finger aplasia

MedGen UID:: 1841564
•Concept ID:: C5779506
•: Congenital Abnormality

A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).

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Abnormality of limbs

Recent clinical studies

Diagnosis

Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report.

Elalaoui SC, Fejjal N, Li Y, Thiele H, Altmüller J, Guaoua S, Nürnberg P, Wollnik B, Sefiani A, Ratbi I
Pan Afr Med J 2021;39:21. Epub 2021 May 7 doi: 10.11604/pamj.2021.39.21.26176. PMID: 34394812 Free PMC Article

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Split hand-foot malformation 6(SHFM6)

Definition

Clinical features

Recent clinical studies

Diagnosis

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