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.
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.Sources and references
You can check the following sources for additional information.
MESH ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PEROXISOME BIOGENESIS DISORDER 4B; PBD4B GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY BRODY MYOPATHY