Meckel syndrome

Orpha code: 564OMIM code: 616258

Definition

A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

Disease data
Classification

Malformation syndrome

Synonyms
Dysencephalia splanchnocystica
Zespół Meckela i Grubera
Meckel-Gruber syndrome
ORPHA code
564
OMIM code
616258
ICD10 code
Q61.9
ICD11 code
LD2F.13

No additional description.

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