Orphanet: Orofaciodigital syndrome type 8
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Orofaciodigital syndrome type 8

Disease definition

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.

ORPHA:2755

Classification level: Disorder
  • Synonym(s):
    • OFD8
    • Oral-facial-digital syndrome type 8
    • Oral-facial-digital syndrome, Edwards type
    • Orofaciodigital syndrome, Edwards type
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 300484
  • UMLS: C0796101
  • MeSH: -
  • GARD: 4060
  • MedDRA: -

Summary

Epidemiology

The syndrome has been described in one family with four affected males in three generations.

Clinical description

Increased susceptibility to respiratory infections has been noted.

Etiology

X-linked recessive transmission has been suggested, but the causative gene has not yet been identified.

- Last update: November 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Additional information

Further information on this disease

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