Hypertelorism-hypospadias-polysyndactyly Syndrome


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.

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

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.


Accelerate your rare disease diagnosis with us

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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 1; MPPH1 GLOMUVENOUS MALFORMATIONS; GVM CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 COFFIN-SIRIS SYNDROME 1; CSS1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian

Learn more