Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Orofaciodigital syndrome type 8

ORPHA2755
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
UMLS
  • C0796101
MeSH -
MedDRA -

Summary

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.

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

Increased susceptibility to respiratory infections has been noted.

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


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
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.