Oral-facial-digital type I (OFDI) syndrome

Oral-facial-digital type I (OFDI) syndrome is a rare genetic disorder reported to have an incidence of 1:250,000 live births.
OFDI is an X-linked dominant developmental disorder with lethality in males. At least nine different forms of oral–facial–digital syndromes have been identified, type I being the most common. OFDI is characterized by malformations of the face, oral cavity, digits, CNS malformations and cystic kidneys with reports of patients in which the renal involvement completely dominates the clinical course of the disease.

The gene responsible for this genetic disorder, named OFD1, has been identified in the Xp22 region. OFD1 encodes a centrosome-associated protein, which has also been localized at primary cilia in fully differentiated renal epithelial cells. Expression studies have shown that it is expressed during development and in adult tissues, in all the structures affected by this syndrome. In human embryos, OFD1 immunolocalizes to the metanephric mesenchyme, oral mucosa, tongue, nasal and cranial cartilage, limb and brain.

Electron microscopy scanning from E7.5 embryos of wild-type (a) and heterozygous mice (b), and of Ofd1Δ4-5 male mutants (c). Nodal cilia (indicated by arrows), present in wild-type and heterozygous mice (a-b), are absent in mutants (c).
[Taken from Ferrante MI, Zullo A, Barra A, Bimonte S, Messaddeq N, Studer M, Dolle P, Franco B (2006). Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification. Nat Genet 38: 112-117].

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