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Definition

A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD4 patients have tongue nodules, multiple frenulae, broad flat nose, hypertelorism, and short rib polydactyly with tibial dysplasia (Majewski syndrome). The presence of severe tibial aplasia differentiates OFD4 from OFD1. Additional features of cystic dysplastic kidneys and brain malformation, including occipital encephalocele, are observed in severely affected patients.

Acronym

OFD4

Synonyms

Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFDS IV
OFD syndrome Baraitser-Burn type
OFD syndrome with tibial defects
Oral-facial-digital syndrome, type IV
Oral-facial-digital syndrome 4
Orofaciodigital syndrome IV

Keywords

Ciliopathy

 
Disclaimer

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