Meckel-Gruber syndrome

Description

Meckel syndrome (MKS) is a monogenic disease characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly, and a lethal course, with death occurring in the perinatal period.

Index terms

Meckel-Gruber syndrome
Meckel syndrome

Exclusions from above levels

http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD2F.10 – Prune belly syndrome
LD2F.11 – VATER association
LD2F.12 – Sirenomelia
LD2F.14 – MURCS association
LD2F.15 – Noonan syndrome
LD2F.16 – Otomandibular dysplasia
LD2F.1Y – Other specified syndromes with multiple structural anomalies, not of environmental origin
LD2F.1Z – Syndromes with multiple structural anomalies, not of environmental origin, unspecified

Foundation entity

Meckel-Gruber syndrome – http://id.who.int/icd/entity/695796893

Part of: LD2F.1: Syndromes with multiple structural anomalies, not of environmental origin › LD2F: Syndromes with multiple structural anomalies, without predominant body system involvement › 20: Developmental anomalies