Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Orpha code: 2064OMIM code: 192800

Definition

A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.

Disease data
Classification

Malformation syndrome

Synonyms
Faulk-Epstein-Jones syndrome
Zespół Faulka, Epsteina i Jonesa
ORPHA code
2064
OMIM code
192800
ICD10 code
Q87.5
ICD11 code
-

No additional description.

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