Lethal hemolytic anemia-genital anomalies syndrome

Orpha code: 1046OMIM code: 600461

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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