Orofaciodigital syndrome type 1 (OFD1) is an X-linked dominant disease.

Synopsis

 short stature
 frontal bossing
 hearing loss
 telecanthus
 hypertelorism
 hypoplastic alar cartilage
 hyperplastic oral frenuli
 median cleft lip
 lobulated tongue
 bifid tongue
 tongue nodule
 cleft palate
 tongue hamartoma
 highly arched palate
 dental caries
 anomalous anterior teeth
 enamel hypoplasia
 supernumerary teeth
 missing teeth
 adult onset polycystic kidney
 clinodactyly
 syndactyly
 brachydactyly
 unilateral preaxial polydactyly
 milia of upper face and ears (infancy)
 dry scalp
 dry, rough, sparse hair
 alopecia
 variable mental retardation
 absence of corpus callosum
 gray matter heterotopias
 hydrocephalus
 seizures
 hypothalamic hamartoma
 porencephaly

Etiology

 mutations in the CXORF5 gene (MIM.311200)

• CXORF5 was identified by positional cloning, and its product localizes to basal bodies of polarized renal epithelial cells.
• Although this is the first gene identified in CDK that is associated with facial and dental malformations, its gene product, again, fulfils the rule of centrosomal expression.

See also

 orofaciodigital syndromes