x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) 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.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Orofaciodigital syndrome type 4

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.

ORPHA:2753

Classification level: Disorder
  • Synonym(s):
    • Baraitser-Burn syndrome
    • Mohr-Majewski 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
  • ICD-11: LD25.00
  • OMIM: 258860
  • UMLS: C0406727
  • MeSH: C537133
  • GARD: 816
  • MedDRA: -

Summary

Epidemiology

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.

Etiology

The causative gene has not yet been identified.

Genetic counseling

Autosomal recessive inheritance has been suggested.

Expert reviewer(s):  Pr Marie-Paule VAZQUEZ - 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

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.