Orofaciodigital syndrome 9

Other Names: OFD9; Oral-facial-digital syndrome type 9; OFD syndrome 9; Orofaciodigital syndrome with retinal abnormalities; Oral-facial-digital syndrome with retinal abnormalities; Orofaciodigital syndrome IX; Oral facial digital syndrome type 9; Oral facial digital syndrome 9; OFDS 9

Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).

Epidemiology

Less than ten cases have been described in the literature.

Cause

The causative gene has not yet been identified.

Inheritance

X-linked recessive inheritance

Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.

Signs and symptoms

Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally.

Diagnosis

There are no specific tests to confirm daignosis. However,diagnosis is generally made on the basis of clinical signs and symptoms.

Treatment

Treatment is supportive based on signs and symptoms. Genetic counselling is recommended for patients and their families. Treatment may involve reconstructive surgery for facial clefts.

NIH genetic and rare disease info

• NIH info on Orofaciodigital syndrome 9

Orofaciodigital syndrome 9 is a rare disease.

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