Ankyloblepharon-ectodermal Defects-cleft Lip/palate

Clinical Features

Top most frequent phenotypes and symptoms related to Ankyloblepharon-ectodermal Defects-cleft Lip/palate

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain
  • Feeding difficulties
  • Wide nasal bridge
  • Ventricular septal defect
  • Abnormality of the dentition
  • Syndactyly

And another 73 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

Ankyloblepharon-ectodermal Defects-cleft Lip/palate Is also known as hay-wells syndrome, aec 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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Ankyloblepharon-ectodermal Defects-cleft Lip/palate Recommended genes panels

Panel Name, Specifity and genes Tested/covered
P63-related disorders.

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

TP63
Specificity
100 %
Genes
100 %
TP63 Sequencing.

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

TP63
Specificity
100 %
Genes
100 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
TP63.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TP63
Specificity
100 %
Genes
100 %
TP63. Complete sequencing.

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

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exon 3.

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

TP63
Specificity
100 %
Genes
100 %
TP63. Sequencing of the exons 13 and 14.

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

TP63
Specificity
100 %
Genes
100 %
TP63,EDA,EDAR,EDARADD,WNT10A, NextGeneDx.Complete sequencing by NGS.

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

WNT10A, EDARADD, TP63, EDAR, EDA
Specificity
20 %
Genes
100 %

We have 73 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3 NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA; EAOH SPINOCEREBELLAR ATAXIA 36; SCA36 DONOHUE SYNDROME COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG

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