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Orofaciodigital syndrome type 4

Synonym(s) Baraitser-Burn syndrome
Mohr-Majewski syndrome
Oral-facial-digital syndrome type 4
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.0
  • C0406727
MeSH -
MedDRA -


Disease definition

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.

Clinical description

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


The causative gene has not yet been identified.

Genetic counseling

Autosomal recessive inheritance has been suggested.

Expert reviewer(s)

  • Pr Marie-Paule VAZQUEZ

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