Split-hand/foot Malformation 4; Shfm4

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 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 ).

Genes related to Split-hand/foot Malformation 4; Shfm4

TP63

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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

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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.

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 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 Panel complete gene list SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2, B3GLCT, BCOR, CUL7, FAT4, CREBBP, FREM2, MAMLD1, CYP11A1, TMEM70, ESCO2, DHCR7, SPECC1L, WDR35, EPG5, DNMT3B, EFNB1, EVC, FGF10, FGFR1, FGFR2, FGFR3, FLNA, GLI3, GPC3, HBA1, HCCS, HOXA13, HSD3B2, IRF6, AR, MAP3K1, MID1, MKKS, NR5A1, PDE4D, PEX1, ATRX, PITX2, PTDSS1, PTPN11, RBBP8 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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