Arthrogryposis, Distal, Type 2a; Da2a

Description

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Distal, Type 2a; Da2a

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia

And another 63 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.

Alternative names

Arthrogryposis, Distal, Type 2a; Da2a Is also known as craniocarpotarsal dysplasia, fss, craniocarpotarsal dystrophy, whistling face-windmill vane hand syndrome, freeman-sheldon syndrome.

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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Arthrogryposis, Distal, Type 2a; Da2a 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
2 %
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
10 %
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
10 %
Genes
100 %
Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

MYH3
Specificity
100 %
Genes
100 %
MYH3. Complete sequencing.

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

MYH3
Specificity
100 %
Genes
100 %
MYH3. Complete sequencing.

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

MYH3
Specificity
100 %
Genes
100 %
Freeman-Sheldon syndrome (sequence analysis of MYH3 gene).

By CGC Genetics (Portugal).

MYH3
Specificity
100 %
Genes
100 %
Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene).

By CGC Genetics (Portugal).

MYH3
Specificity
100 %
Genes
100 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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