Split-hand/foot Malformation 6; Shfm6

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Split-hand/foot Malformation 6; Shfm6

WNT10B

View recommended genes panels

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

— Currently we don't have prevalence information about this disease (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.

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 %

You can get up to 2 more panels with our dedicated tool

Learn more

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 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A; CSNB1A CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K TYROSINEMIA, TYPE I; TYRSN1 MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13