Ptosis-strabismus-ectopic pupils syndrome

Orpha code: 2999OMIM code: 178330

Definition

A rare disorder characterized by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.

Disease data
Classification

Malformation syndrome

Synonyms
McPherson-Hall syndrome
Zespół McPhersona i Halla
ORPHA code
2999
OMIM code
178330
ICD10 code
Q10.0
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl