Freeman-sheldon Syndrome

Table of contents:

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

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.

Genes related to Freeman-sheldon Syndrome

MYH3
NALCN

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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.

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 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 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 %

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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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