Lichtenstein syndrome

Orpha code: 2390OMIM code: 246550

Definicja

A rare genetic disease characterized by frequent infections associated with neutropenia and IgA deficiency, in combination with osteoporosis and skeletal anomalies, such as posterior spinal arch fusion defect, metacarpal subluxation, syndactyly, and camptodactyly. Reported dysmorphic features include synophrys, anteverted nostrils, and single palmar crease. There have been no further descriptions in the literature since 1972.

Disease data
Klasyfikacja

Disease

Kod ORPHA
2390
Kod OMIM
246550
Kod ICD10
D70
Kod ICD11
-

No additional description.

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