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Синдром Ламберта

ORPHA:1296· ICD-10 Q87.8· Lambert syndrome

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Unknown
Вік початку
Neonatal