Junctional epidermolysis bullosa with pyloric atresia

Orpha code: 79403OMIM code: 226730

Definition

A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

Disease data
Classification

Disease

Synonyms
Carmi syndrome
Zespół Carmi
JEB with pyloric atresia
JEB-PA
ORPHA code
79403
OMIM code
226730
ICD10 code
Q81.8
ICD11 code
-

No additional description.

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