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Orofaciodigital syndrome type 8

What is Orofaciodigital syndrome type 8?

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.

Other condition names

  • OFD8
  • Oral-facial-digital syndrome type 8
  • Oral-facial-digital syndrome, Edwards type
  • Orofaciodigital syndrome, Edwards type

Inheritance type

X-linked recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.