Orofaciodigital syndrome 3

Other Names: OFD3; Oral-facial-digital syndrome type 3; OFD syndrome 3; Orofaciodigital syndrome III; Oral facial digital syndrome 3; Oral facial digital syndrome type 3; OFDS 3

Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.

Epidemiology

Five cases in two families have been reported (two males and three females).

Cause

The causative gene has not yet been identified.

Inheritance

Autosomal recessive inheritance, a 25% chance

Autosomal recessive inheritance has been suggested.

Signs and symptoms

Main clinical features include prominent forehead and occiput, round face with full cheeks, hypertelorism, esotropia, downslanting palpebral fissures, myoclonic twitching of the eyelids, conjugate deviation of the eyes, bifid uvula, pectus excavatum, short sternum, kyphosis, postaxial polydactyly, normal stature and severe spasticity.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 30%-79% of people have these symptoms

• Bifid uvula
• Bulbous nose
• Dandy-Walker malformation
• Exotropia(Outward facing eye ball)
• Eyelid myoclonias
• Hamartoma of tongue
• Hypertelorism(Wide-set eyes)
• Intellectual disability, severe(Early and severe mental retardation)
• Irregular dentition(Irregular teeth)
• Lobulated tongue(Bumpy tongue)
• Low-set ears(Low set ears)
• Myoclonus
• Oculomotor apraxia
• Pectus excavatum(Funnel chest)
• Postaxial foot polydactyly(Extra toe attached near the little toe)
• Postaxial hand polydactyly(Extra little finger)
• Short sternum
• Spasticity(Involuntary muscle stiffness, contraction, or spasm)
• Stage 5 chronic kidney disease
• Suprasellar arachnoid cyst
• Thoracic kyphosis

5%-29% of people have these symptoms

• Cherry red spot of the macula
• Seesaw nystagmus

Diagnosis

There are no specific tests to confirm diagnosis. 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 3

Orofaciodigital syndrome 3 is a rare disease.