Young Hughes Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Young-Hughes syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation , hypogonadism , ichthyosis , obesity and short stature .
Synonym : X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
The name refers to the authors of the first description from 1982 by the doctors ID Young and HE Hughes.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is X chromosomal - recessive .
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn or early childhood
- Mental disability
- Short stature
- Obesity
- Primary hypogonadism
- Ichthyosis-like skin changes
Differential diagnosis
The independence and the differentiation from similar syndromes has not yet been clarified.
literature
- IA Glass: X linked mental retardation. In: Journal of medical genetics. Vol. 28, No. 6, June 1991, pp. 361-371, PMID 1870092 , PMC 1016899 (free full text) (review).
- M. Schmuth, V. Martinz, AR Janecke, C. Fauth, A. Schossig, J. Zschocke, R. Gruber: Inherited ichthyoses / generalized Mendelian disorders of cornification. In: European Journal of Human Genetics : EJHG. Vol. 21, No. 2, February 2013, pp. 123-133, doi: 10.1038 / ejhg.2012.121 , PMID 22739337 , PMC 3548255 (free full text) (review).
Individual evidence
- ↑ a b c X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome. In: Orphanet (Rare Disease Database).
- ^ A b I.D. Young, HE Hughes: Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family. In: Journal of mental deficiency research. Vol. 26, Part 3, September 1982, pp. 153-162, PMID 7175926 .
- ↑ SB Vasquez, DL Hurst, JF Sotos: X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity-a new syndrome. In: The Journal of pediatrics. Vol. 94, No. 1, January 1979, pp. 56-60, PMID 758423 .
- ^ AE Chudley, RB Lowry, DI Hoar: Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. In: American journal of medical genetics. Vol. 31, No. 4, December 1988, pp. 741-751, doi: 10.1002 / ajmg.1320310404 , PMID 3239563 .
