Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Orpha code: 2057OMIM code: 210745

Definition

A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.

Disease data
Classification

Malformation syndrome

Synonyms
Frydman-Cohen-Karmon syndrome
Zespół Frydmana, Cohena i Karmona
ORPHA code
2057
OMIM code
210745
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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