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Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease definition
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
ORPHA:69088
Classification level: Disorder- Synonym(s):
- OL-EDA-ID
- Prevalence: <1 / 1 000 000
- Inheritance: X-linked recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q78.2
- OMIM: 300301
- UMLS: C1845919
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti.
Clinical description
The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi.
Etiology
The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).
Detailed information
Article for general public
Professionals
- Anesthesia guidelines
- English (2016, pdf)
- Review article
- English (2009)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.