Orphanet: Blepharonasofacial malformation syndrome

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Blepharonasofacial malformation syndrome

Disease definition

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.

ORPHA:1252

Classification level: Disorder

Synonym(s):
- Pashayan syndrome
- Pashayan-Pruzansky syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or X-linked dominant
Age of onset: Childhood
ICD-10: Q87.0
OMIM: 110050
UMLS: C0796197
MeSH: C536303
GARD: 4238
MedDRA: -

Summary

Epidemiology

Blepharonasofacial syndrome has been reported in 3 families to date.

Clinical description

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.

Etiology

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

- Last update: January 2014

A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf) Russian (2014, pdf) Polski (2014)

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