Atkin-Flaitz Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Atkin-Flaitz syndrome is a very rare congenital disease with the main features of mental retardation , short stature , macrocephaly and facial abnormalities and to the non syndromic forms of X-linked mental retardation counted.
Synonyms are: mental retardation, X-linked, Atkin type; Atkin Syndrome; English Atkin-Flaitz-Patil syndrome; Atkin-Flaitz-Patil-Smith syndrome
The name refers to the first authors of the first description from 1985 by the US doctor Joan F. Atkin, the pathologist Catherine Flaitz and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, so far a family with 14 affected people has been described. Inheritance is X-linked dominant . The cause is not yet known.
Clinical manifestations
Clinical criteria are:
- moderate to pronounced intellectual disability
- Short stature
- Macrocephaly and facial dysmorphism
- Macroorchidia after puberty (in males)
Differential diagnosis
The Clark-Baraitser syndrome must be differentiated .
literature
- M. Baraitser, W. Reardon, S. Vijeratnam: Nonspecific X-linked mental retardation with macrocephaly and obesity: a further family. In: American journal of medical genetics. Vol. 57, No. 3, July 1995, pp. 380-384, doi: 10.1002 / ajmg.1320570303 , PMID 7677138 .
Individual evidence
- ↑ a b c Atkin-Flaitz syndrome. In: Orphanet (Rare Disease Database).
- ^ Who named it Atkin-Flaitz syndrome
- ↑ JF Atkin, K. Flaitz, S. Patil, W. Smith: A new X-linked mental retardation syndrome. In: American journal of medical genetics. Vol. 21, No. 4, August 1985, pp. 697-705, doi: 10.1002 / ajmg.1320210411 , PMID 4025397 .
