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Orofaciodigital syndrome type 2
Disease definition
Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.
ORPHA:2751
Classification level: DisorderSummary
Epidemiology
Less than 20 cases have been reported so far.
Clinical description
Main clinical features include bilateral preaxial polydactyly of hands and feet, partial duplication of hallux, brachydactyly, syndactyly, scoliosis, pectus excavatums, short stature, muscular hypotonia, conductive hearing loss. Facial dysmorphism may include midface hypoplasia, hypertelorism, antimongoloid slant, broad nasal root, bifid nasal tip, cleft palate, microglossia, lobulated tongue, thick frenulum and low set ears. Microcephaly, porencephaly and internal hydrocephalus are also observed. Intelligence is normal in the majority of cases. Intellectual deficit and increased susceptibility to respiratory infections have been described in some patients. Involvement of the central nervous system (cerebellar atrophy) seems to be a clinical feature of OFD2.
Etiology
The causative gene has not yet been identified.
Genetic counseling
Autosomal recessive inheritance has been suggested.
A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)
Detailed information
General public
- Article for general public
- Svenska (2012) - Socialstyrelsen
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information