Roifman-Chitayat Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Roifman-Chitayat syndrome is a very rare congenital disease with a combination of immune deficiency and malformations in the face , eyes and skeleton .
The syndrome is not to be confused with Roifman's syndrome or Roifman-Melamed syndrome , now known as spondyloenchondrodysplasia .
The name refers to the authors of the first description from 2009 by the Canadian doctors Chaim M. Roifman and D. Chitayat.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease is based on mutations on chromosome 15 locus q11 – q21.1.
Clinical manifestations
Clinical criteria are:
- Immune defects with repeated bacterial , viral or fungal infections
- Neurological abnormalities such as hypotonia , ataxia , myoclonus
- Developmental delay
- Optic atrophy
- Facial dysmorphism with a high forehead , hypertelorism , flat and wide bridge of the nose, thin upper lip, rectangular chin
- Skeletal malformations such as short carpal bones , metatarsal bones , conical epiphyses, and osteopenia
Individual evidence
- ↑ a b c Combined immunodeficiency with facio-oculo-skeletal anomalies. In: Orphanet (Rare Disease Database).
- ↑ CM Roifman, D. Chitayat: Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. In: Clinical genetics. Volume 76, Number 5, November 2009, pp. 449-457, doi: 10.1111 / j.1399-0004.2009.01239.x , PMID 19863561 .
- ↑ a b Roifman-Chitayat syndrome. In: Online Mendelian Inheritance in Man . (English)
