Lethal hemolytic anemia-genital anomalies syndrome

Orpha code: 1046OMIM code: 600461

Definition

A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.

Disease data
Classification

Malformation syndrome

Synonyms
Water-West syndrome
Zespół Watera i Westa
ORPHA code
1046
OMIM code
600461
ICD10 code
D58.8
ICD11 code
-

No additional description.

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