Digitotalar Dysmorphism

Table of contents:

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

Description

Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis (see this term).

Genes related to Digitotalar Dysmorphism

MYH3
TPM2
NALCN
TNNI2
TNNT3
MYBPC1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Digitotalar Dysmorphism

Flexion contracture
Talipes equinovarus
Narrow mouth
Camptodactyly
Joint stiffness
Camptodactyly of finger
Arthrogryposis multiplex congenita
Talipes
Joint contracture of the hand
Adducted thumb

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available DIGITOTALAR DYSMORPHISM have a estimated prevalence of 10 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Digitotalar Dysmorphism Is also known as ulnar drift, hereditary, da1, distal arthrogryposis type 1, da1a.

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.

Digitotalar Dysmorphism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 11 % Genes 100 %
Distal Arthrogryposis Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8 Specificity 55 % Genes 100 %
Distal Arthrogryposis Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8 Specificity 55 % Genes 100 %
Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17. By ARUP Laboratories, Molecular Genetics and Genomics (United States). MYH3 Specificity 100 % Genes 17 %
MYH3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). MYH3 Specificity 100 % Genes 17 %
MYH3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). MYH3 Specificity 100 % Genes 17 %
Freeman-Sheldon syndrome (sequence analysis of MYH3 gene). By CGC Genetics (Portugal). MYH3 Specificity 100 % Genes 17 %
Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene). By CGC Genetics (Portugal). MYH3 Specificity 100 % Genes 17 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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