Lichtenstein syndrome

Orpha code: 2390OMIM code: 246550

Definition

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
Classification

Disease

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

No additional description.

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