Hypertelorism-hypospadias-polysyndactyly Syndrome

Description

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Hypertelorism-hypospadias-polysyndactyly Syndrome

  • Short stature
  • Microcephaly
  • Hypertelorism
  • Ptosis
  • Low-set ears
  • High palate
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • Respiratory distress
  • Long philtrum

And another 42 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hypertelorism-hypospadias-polysyndactyly Syndrome Is also known as acrofrontofacionasal dysostosis with genitourinary anomalies, affn dysostosis 2, affnd2, hypertelorism, hypospadias, and polysyndactyly syndrome, acrofrontofacionasal dysostosis type 2, acrofrontofacionasal syndrome type 2, naguib-richieri-costa 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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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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