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Hypertelorism-hypospadias-polysyndactyly syndrome

Disease definition

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

ORPHA:2211

Classification level: Disorder
  • Synonym(s):
    • Acrofrontofacionasal dysostosis type 2
    • Acrofrontofacionasal syndrome type 2
    • Naguib-Richieri-Costa syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD25.3
  • OMIM: 239710
  • UMLS: C1855904
  • MeSH: C538332
  • GARD: 287
  • MedDRA: -

Summary

Epidemiology

It has been described in three families.

Clinical description

Craniofacial manifestations include wide anterior fontanel, flat occiput, hypertelorism, ptosis, proptosis, broad nasal bridge and nasal tip, long philtrum and posteriorly rotated or low set ears. Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly. The affected patients have no intellectual deficit.

Genetic counseling

The condition seems to be hereditary, and transmitted as an autosomal recessive trait.

- Last update: October 2010

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.