Lambert syndrome

Orpha code: 1296OMIM code: 245550

Definition

A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.

Disease data
Classification

Malformation syndrome

Synonyms
Branchial dysplasia-intellectual disability-inguinal hernia syndrome
Dysplazja skrzelowa - niepełnosprawność intelektualna - przepuklina pachwinowa
ORPHA code
1296
OMIM code
245550
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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