Split-hand/foot Malformation 6; Shfm6

Description

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 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Split-hand/foot Malformation 6; Shfm6

  • Intellectual disability
  • Syndactyly
  • Finger syndactyly
  • Toe syndactyly
  • Split hand
  • Cutaneous syndactyly
  • Ectrodactyly
  • Split foot
  • Hand oligodactyly
  • Foot oligodactyly

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Split-hand/foot Malformation 6; Shfm6 Is also known as ectrodactyly, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Split-hand/foot Malformation 6; Shfm6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Split-hand/foot malformation 6 (sequence analysis of WNT10B gene).

By CGC Genetics (Portugal).

WNT10B
Specificity
100 %
Genes
100 %
Oligodontia - Selective tooth agenesis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
Oligodontia - Selective tooth agenesis NGS panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
Oligodontia - Selective tooth agenesis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R
Specificity
12 %
Genes
100 %
Split-hand/foot malformation type 6.

By Centogene AG - the Rare Disease Company (Germany).

WNT10B
Specificity
100 %
Genes
100 %
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH (Germany).

ROR2, BMP2, BMPR1B, WNT10B, WNT7A, LMBR1, TP63, TRPV4, BHLHA9, FBLN1, FGF16, GDF5, GJA1, GLI3, HOXA11, HOXD13, IHH, LRP4, NOG, PTHLH
Specificity
5 %
Genes
100 %
WNT10B.

By Fulgent Genetics Fulgent Genetics (United States).

WNT10B
Specificity
100 %
Genes
100 %
SPLIT HAND-SPLIT FOOT MALFORMATION.

By Laboratorio de Genetica Clinica SL (Spain).

SEM1, WNT10B, TP63, DLX5
Specificity
25 %
Genes
100 %

We have 2 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more