ATR-X syndrome

Classification according to ICD-10
D56.0	Alpha thalassemia
ICD-10 online (WHO version 2019)

The ATR-X syndrome or X-linked alpha thalassemia mental retardation syndrome , also ATR, NONDELETION TYPE, is a congenital disease that only occurs in male patients with severe developmental delay, malformations of the face and genitals and alpha thalassemia .

There are no physical or mental abnormalities in female carriers.

The combination was first described as ATR-X syndrome in 1990 by the British Andrew 0. M. Wilkie .

Characteristic facial features in an 8-year-old with ATR-X syndrome

distribution

The disease is X-linked - recessive inherited, so far less than 200 patients have been reported.

root cause

The disease is caused by mutations in the ATRX gene on chromosome Xq21.1.

clinic

What is noticeable is a slack-looking (hypotonic) face with a conspicuous mouth, hypertelorism , epicanthus , flat bridge of the nose, small triangular snub nose, protruding lower lip.

As a rule, there is a very limited ability to speak. The eponymous alpha thalassemia is not always present. Genital abnormalities such as a lack of descensus testi to intersexual genitals are found in 80%. Epileptic seizures occur in around 30%.

diagnosis

A diagnosis is confirmed by the detection of alpha thalassemia, a mutation in the ATRX gene and analysis of the ATRX protein.

Differential diagnosis

The following are to be distinguished:

• Angelman Syndrome
• ATR-16 syndrome
• Coffin-Lowry Syndrome
• Smith-Lemli-Opitz syndrome
• Trisomy Xq28

therapy

A causal treatment is not known, but symptoms sometimes only appear in later decades of life.

Individual evidence

1. ↑ ^{a b c d e f} ATR-X syndrome. In: Orphanet (Rare Disease Database).
2. ↑ AO Wilkie, HC Zeitlin, RH Lindenbaum, VJ Buckle, N. Fischel-Ghodsian, DH Chui, D. Gardner-Medwin, MH MacGillivray, DJ Weatherall, DR Higgs: Clinical features and molecular analysis of the alpha thalassemia / mental retardation syndromes . II. Cases without detectable abnormality of the alpha globin complex. In: American Journal of Human Genetics . Volume 46, Number 6, June 1990, pp. 1127-1140, ISSN  0002-9297 . PMID 2339705 . PMC 1683828 (free full text).
3. ↑ ATR-X syndrome.  In: Online Mendelian Inheritance in Man . (English)

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