Cleft Palate, Isolated; Cpi

Description

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

Clinical Features

Top most frequent phenotypes and symptoms related to Cleft Palate, Isolated; Cpi

  • Seizures
  • Micrognathia
  • Cleft palate
  • Cleft lip
  • Oral cleft
  • Intellectual disability, profound
  • Gingival overgrowth
  • Non-midline cleft lip
  • Facial cleft
  • Cleft soft palate

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available CLEFT PALATE, ISOLATED; CPI have a estimated birth prevalence of 53.6 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Cleft Palate, Isolated; Cpi Is also known as cp, cleft palate.

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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Cleft Palate, Isolated; Cpi Recommended genes panels

Panel Name, Specifity and genes Tested/covered
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...)

View the complete list with 114 more genes
Specificity
1 %
Genes
100 %
UBB.

By Fulgent Genetics Fulgent Genetics (United States).

UBB
Specificity
100 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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