1. Mendelian
  2. Rare Diseases
  3. DIGITOTALAR DYSMORPHISM

Digitotalar Dysmorphism

Table of contents:

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
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 %

You can get up to 154 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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