Blepharonasofacial malformation syndrome

Orpha code: 1252OMIM code: 110050

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.

Disease data
Classification

Malformation syndrome

Synonyms
Pashayan syndrome
Zespół Pashayan
Zespół Pashayan i Prozansky'ego
Pashayan-Pruzansky syndrome
ORPHA code
1252
OMIM code
110050
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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