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

Simple search

*
(*) mandatory field





 

Other search option(s)

Orofaciodigital syndrome type 4

ORPHA2753
Synonym(s) Baraitser-Burn syndrome
OFD4
Oral-facial-digital syndrome type 4
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.0
OMIM
UMLS
  • C0406727
MeSH -
MedDRA -

Summary

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

Approximately 15 cases have been reported so far.

Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence.

The causative gene has not yet been identified.

Autosomal recessive inheritance has been suggested.

Expert reviewer(s)

  • Pr Marie-Paule VAZQUEZ

(*) 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.