Aarskog syndrome

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Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
- Aarskog syndrome
ICD-10 online (WHO version 2019)

The Aarskog syndrome is also known as Aarskog Scott syndrome or Facio-digito-genital dysplasia known. It was named after the Norwegian pediatrician and human geneticist Dagfinn Aarskog and the American pediatrician Charles I. Jr. Scott .

description

The rarely occurring Aarskog syndrome is an X-linked inherited syndrome , with low expression in women, typically characterized by the simultaneous presence of short stature , anomalies of the facial features (facies), the genitals , the hands and feet ( brachydactyly with partial cutaneous syndactyly ). Characteristic features are a round face with a broad forehead, a snub nose, a broad bridge of the nose and anteverted nostrils, hypertelorism and a scarf crotum (80% of cases). The cornea of the eyes is usually changed ( megalocornea ). The facial abnormalities recede with increasing age. Men are always completely affected, the female carriers sometimes show phenotypic characteristics. The children affected are generally in good health and the developmental steps are within the normal limit range. In almost a third of those affected, there is usually a slight mental retardation . Initial delays in motor development and, in some cases, sexual maturation are also possible. Brachydactyly with partial cutaneous syndactyly can occur. There is a risk of an inguinal hernia . Some cases suggest the possibility of autosomal inheritance.

The positive effect of treatment with growth hormones on growth and final height has been proven in a study.

root cause

Aarskog syndrome is caused by mutations in the FGD1 gene ( facio genital dysplasia type I ) in region Xp11.21.

literature

  • Aarskog syndrome. In: Orphanet (Rare Disease Database).
  • P. Reddy, OP Kharbanda et al. a .: Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. In: The Journal of clinical pediatric dentistry. Volume 23, Number 2, 1999, pp. 155-159, ISSN  1053-4628 . PMID 10204459 . (Review).
  • D. Aarskog: A familial syndrome of short stature associated with facial dysplasia and genital anomalies. In: The Journal of Pediatrics . Volume 77, Number 5, November 1970, pp. 856-861, ISSN  0022-3476 . PMID 5504078 .
  • CI Scott Jr. Unusual facies, joint hypermobility, genital anomaly and short stature. A new dysmorphic syndrome. In: D. Bergsma, VA McKusick, BW Konigsmark (ed.): The Clinical Delineation of Birth Defects. 10th Edition, The Endocrine System , Baltimore, 1971, pp. 240-246.