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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): 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 middle 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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Professional guidelines

PubMed

Identification of a pathogenic variant and pre-implantation genetic testing for a Chinese family affected with split-hand/foot malformation.
Mei LB, Zhang YY, Huang XJ, Ji H, Qiu PP, Ding L, He X, Li P
Yi Chuan 2024 Sep;46(9):750-756. doi: 10.16288/j.yczz.24-141. PMID: 39275874

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: 34394812Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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      Related literature resources in PubMed

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