Monosomy 5p

Description

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to Monosomy 5p

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia
  • High palate
  • Epicanthus
  • Wide nasal bridge
  • Intrauterine growth retardation
  • Downslanted palpebral fissures

And another 17 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Monosomy 5p Is also known as cri du chat syndrome, deletion 5p.

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.

Monosomy 5p Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
50 %
Autism Spectrum Disorders Panel.

By Blueprint Genetics (Finland).

RPL10, TCF20, TRIP12, TSC1, TSC2, BCL11A, CACNA1C, NSD1, NLGN4X, NLGN3, SHANK3, ADNP, POGZ, CNTN6, COL4A3BP, KMT5B, CTNND2, PTCHD1, DHCR7, CC2D1A , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SCN1A, SCN1B, SCN2A, SCN9A, SGCE, SLC6A1, STXBP1, CACNB4, CERS1, PCDH19, ARHGEF9, EFHC1, SCARB2, PRICKLE1, ADGRV1, ARX, STX1B, CHD2, CLCN2, PRICKLE2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
50 %
SEMA5A.

By Fulgent Genetics Fulgent Genetics (United States).

SEMA5A
Specificity
100 %
Genes
50 %

You can get up to -4 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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