Cri-du-chat Syndrome

Description

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

Clinical Features

Top most frequent phenotypes and symptoms related to Cri-du-chat Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive

And another 98 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.)
— The onset for some of the known clinical features related to this disease may vary, including juvenile onset .

Alternative names

Cri-du-chat Syndrome Is also known as cat cry syndrome, chromosome 5p deletion 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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Cri-du-chat Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
50 %
Hermansky-Pudlak and Pulmonary Fibrosis Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
50 %
Diffuse Lung Disease NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPB, SFTPC, SLC7A7, TERC, TERT, TINF2, NKX2-1, HPS4, CSF2RA, CSF2RB, DKC1, ABCA3, FOXF1, HPS1, AP3B1
Specificity
7 %
Genes
50 %
Telomere Shortening Disorders Spectrum NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TERC, TERT, TINF2, NHP2, NOP10, WRAP53, CTC1, DKC1
Specificity
13 %
Genes
50 %
Idiopathic Pulmonary Fibrosis NGS Panel.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

SFTPA2, SFTPC, TERC, TERT, TINF2, NKX2-1, HPS4, DKC1, ABCA3, HPS1, AP3B1
Specificity
10 %
Genes
50 %
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPL11, RPL35A, RPL5, RPS10, RPS15, RPS19, RPS24, RPS26, RPS27A, RPS7, BRCA2, SRP72, TERT, THPO, TINF2, XRCC2, RPL36, NHP2, NOP10, SBDS , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
50 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
50 %
Dyskeratosis Congenita panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TERC, TERT, TINF2, NHP2, NOP10, RTEL1, WRAP53, DKC1
Specificity
13 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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