Deafness-lymphedema-leukemia syndrome

Orpha code: 3226OMIM code: 614038

Definicja

A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Emberger syndrome
Zespół Embergera
Hearing loss-lymphedema-leukemia syndrome
Kod ORPHA
3226
Kod OMIM
614038
Kod ICD10
D46.7
Kod ICD11
BD93.0

No additional description.

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