Orofaciodigital syndrome 4

Other Names: OFD4; Orofaciodigital syndrome with tibial dysplasia; Baraitser-Burn syndrome; OFD syndrome with tibial defects; OFD syndrome 4; Oral-facial-digital syndrome type 4; Orofaciodigital syndrome IV; Oral facial digital syndrome type 4; Oral facial digital syndrome 4; OFDS 4

Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).

Cause

The condition appears to be caused by mutations in the tectonic family member 3 gene (TCTN3).

Inheritance

Autosomal recessive inheritance, a 25% chance

Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion.

Signs and symptoms

Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia).

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal oral frenulum morphology
• Abnormality of eye movement(Abnormal eye movement)
• Abnormality of the gingiva(Abnormality of the gums)
• Abnormality of the tongue(Abnormal tongue)
• Absent testis(Absent testes)
• Aplasia/Hypoplasia of the tibia(Absent/small shankbone)
• Choanal atresia(Blockage of the rear opening of the nasal cavity)
• Conductive hearing impairment(Conductive deafness)
• Decreased testicular size(Small testes)
• Depressed nasal ridge(Flat nose)
• Finger syndactyly
• Genu varum(Outward bow-leggedness)
• Global developmental delay
• Hamartoma
• Hypertelorism(Wide-set eyes)
• Intellectual disability(Mental deficiency)
• Intrauterine growth retardation(Prenatal growth deficiency)
• Joint dislocation(Joint dislocations)
• Laryngomalacia(Softening of voice box tissue)
• Low-set ears(Low set ears)
• Median cleft lip(Central cleft upper lip)
• Microcephaly(Abnormally small skull)
• Micrognathia(Little lower jaw)
• MicromeliaSmaller or shorter than typical limbs
• Microtia, third degree
• Monorchism
• Oligohydramnios(Low levels of amniotic fluid)
• Oral synechia
• Postaxial hand polydactyly(Extra little finger)
• Posteriorly rotated ears(Ears rotated toward back of head)
• Preaxial hand polydactyly(Extra thumb)
• Recurrent respiratory infections(Frequent respiratory infections)
• Retrognathia(Receding chin)
• Severe short stature(Dwarfism)
• Short nose(Decreased length of nose)
• Specific learning disability
• Wide nose(Broad nose)

30%-79% of people have these symptoms

• Bifid uvula
• Camptodactyly of finger(Permanent flexion of the finger)
• Cerebral cortical hemiatrophy
• Failure to thrive(Faltering weight)
• Feeding difficulties(Feeding problems)
• High, narrow palate(Narrow, high-arched roof of mouth)
• Proptosis(Bulging eye)
• Split hand(Claw hand)
• Subcortical cerebral atrophy
• Submucous cleft hard palate

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 4

Orofaciodigital syndrome 4 is a rare disease.

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