Orofaciodigital Syndrome, Type IV

Alternative Names

OFD4
OFD Syndrome IV
Oral-Facial-Digital Syndrome, Type IV
OFD Syndrome, Baraitser-Burn Type
OFD Syndrome with Tibial Defects
Baraitser-Burn Syndrome
Mohr-Majewski Syndrome

Back to search Result

WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

258860

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q24.1

Description

Orofaciodigital syndromes consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face and digits. OFD4 is a sub-type of this category of disorders.

Mutations in the TCTN3 gene have been found to be causal for the condition.

Epidemiology in the Arab World

View Map

Lebanon

Other Reports

Lebanon

Ades et al. (1994) described a still born child, born to consanguineous Lebanese parents, with what they described as either a new OFD syndrome, or a severe variant of OFD4.

External Links

http://www.ccakids.com http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=oral-facial-digital+syndrome+IV&field=name http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Oral%20Facial%20Digital%20Syndrome

Contributors

Pratibha Nair: 26.07.2006

Edit History

Pratibha Nair: 03.02.2020
Pratibha Nair: 05.12.2018
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 09.11.2004
Ghazi O. Tadmouri: 23.08.2004
Ghazi O. Tadmouri: 28.02.2004