Split-hand/foot Malformation 4; Shfm4

Description

Split-hand/split-foot malformation 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 SHFM4 have been found to have mental retardation, ectodermal findings, and orofacial clefting (Elliott and Evans, 2006).For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Split-hand/foot Malformation 4; Shfm4

  • Intellectual disability
  • Syndactyly
  • Split hand
  • Abnormality of the face
  • Triphalangeal thumb
  • Ectrodactyly
  • Split foot
  • Aplasia/Hypoplasia involving the metacarpal bones
  • Aplasia/Hypoplasia of the phalanges of the hand
  • Aplasia/Hypoplasia of the phalanges of the toes

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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

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.


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Split-hand/foot Malformation 4; Shfm4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

TP63
Specificity
100 %
Genes
100 %
TP63 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TP63
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
TP63.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TP63
Specificity
100 %
Genes
100 %
TP63. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exon 3.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exons 13 and 14.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

TP63
Specificity
100 %
Genes
100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
20 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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