Blepharonasofacial malformation syndrome

Other Names: Pashayan syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.

Epidemiology

Blepharonasofacial syndrome has been reported in 3 families to date.

Inheritance

X-linked dominant inheritance

Inheritance is thought to be either autosomal or X-linked dominant.

Signs and symptoms

The facies has a mask-like appearance due to weakness of facial muscles, and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus (with temporal displacement of lacrimal puncta), bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes, Babinski sign, poor coordination, and joint laxity are also observed.

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

• Blepharophimosis(Narrow opening between the eyelids)
• Finger syndactyly
• Lacrimation abnormality(Abnormality of tear production)
• Long philtrum
• Mask-like facies(Expressionless face)
• Redundant skin(Loose redundant skin)
• Telecanthus(Corners of eye widely separated)
• Thickened skin(Thick skin)
• Torsion dystonia
• Underdeveloped nasal alae(Underdeveloped tissue around nostril)
• Wide nasal bridge(Broad nasal bridge)
• Wide nose(Broad nose)

30%-79% of people have these symptoms

• Abnormal eyelash morphology(Abnormal eyelashes)
• Cleft palate(Cleft roof of mouth)
• Epicanthus(Eye folds)
• External ear malformation
• Hearing impairment(Deafness)
• Hyperreflexia(Increased reflexes)
• Intellectual disability(Mental deficiency)
• Joint [[hyperflexibility}}(Joints move beyond expected range of motion)
• Non-midline cleft lip
• Sparse lateral eyebrow(Limited hair on end of eyebrow)

5%-29% of people have these symptoms

• Abnormality of the voice(Voice abnormality)
• Cryptorchidism(Undescended testes)
• Inguinal hernia
• Low posterior hairline(Low hairline at back of neck)
• Optic atrophy
• Reduced number of teeth(Decreased tooth count)

NIH genetic and rare disease info

• NIH info on Blepharonasofacial malformation syndrome

Blepharonasofacial malformation syndrome is a rare disease.

Blepharonasofacial malformation syndrome Resources
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