Zellweger-like syndrome without peroxisomal anomalies

Orpha code: 50812OMIM code:

Definition

Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.

Disease data
Classification

Disease

Synonyms
Ahn-Lerman-Sagie syndrome
Zespół Ahna, Lermana i Sagie'a
ORPHA code
50812
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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