Freeman-sheldon Syndrome

Description

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

Clinical Features

Top most frequent phenotypes and symptoms related to Freeman-sheldon Syndrome

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cryptorchidism
  • Ptosis
  • Wide nasal bridge

And another 21 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Freeman-sheldon Syndrome Is also known as craniocarpotarsal dystrophy, craniocarpotarsal dysplasia, distal arthrogryposis type 2a, whistling face 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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Freeman-sheldon Syndrome 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
4 %
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
19 %
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
19 %
Genes
100 %
Freeman-Sheldon Syndrome (MYH3) Sequencing Exon 17.

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

MYH3
Specificity
100 %
Genes
50 %
MYH3. Complete sequencing.

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

MYH3
Specificity
100 %
Genes
50 %
MYH3. Complete sequencing.

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

MYH3
Specificity
100 %
Genes
50 %
Freeman-Sheldon syndrome (sequence analysis of MYH3 gene).

By CGC Genetics (Portugal).

MYH3
Specificity
100 %
Genes
50 %
Arthrogryposis, distal type 2B (sequence analysis of MYH3 gene).

By CGC Genetics (Portugal).

MYH3
Specificity
100 %
Genes
50 %

We have 47 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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