Lichtenstein syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

Newly diagnosed with
Lichtenstein syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.