SHORT syndrome

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

The SHORT syndrome , acronym for S hort stature (dwarfism), H yperextensible joints or bars H ernie (or both), deep-set eyes ( O cular depression), R ieger anomaly and delayed T eething (eruption) is a very rare congenital disease with the main characteristics that give it its name.

Synonyms are: Aarskog-Ose-Pande syndrome; Lipodystrophy - Rieger anomaly - diabetes; Rieger anomaly-partial lipodystrophy syndrome

The first description comes from 1975 by the US human geneticist Robert J. Gorlin et al. And in the same year by the US pediatrician JA Sensenbrenner et al.

The syndrome is not to be confused with short QT syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 50 people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in PIK3R1 - gene on chromosome 5 locus q13.1 based subunit which a Regulatory the phosphoinositide 3-kinase encoded (PI3K).

This gene is also involved in APDS (immunodeficiency 36) and autosomal recessive agammaglobulinemia .

Clinical manifestations

Clinical criteria are:

Insulin-resistant diabetes (in 2/3 of those affected after the age of 15) and polycystic ovary syndrome can also occur.

diagnosis

The diagnosis is based on the clinical findings and can be confirmed by detecting the mutation. Not all features have to be verifiable.

Differential diagnostics

The following are to be distinguished:

therapy

Treatment is symptomatic.

literature

  • M. Klatka, I. Rysz, K. Kozyra, A. Polak, W. Kołłątaj: SHORT syndrome in a two-year-old girl - case report. In: Italian journal of pediatrics. Volume 43, number 1, May 2017, p. 44, doi: 10.1186 / s13052-017-0362-z , PMID 28472977 , PMC 5418728 (free full text) (review).
  • AM Innes, DA Dyment DA: SHORT Syndrome In: GeneReviews® [Internet], Seattle (WA), PMID 24830046 , nih.gov

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d e f SHORT syndrome. In: Orphanet (Rare Disease Database).
  3. ^ RJ Gorlin, J. Cervenka, K. Moller, M. Horrobin, CJ Witkop: Malformation syndromes. A selected miscellany. In: Birth defects original article series. Volume 11, Number 2, 1975, pp. 39-50, PMID 819054 .
  4. ↑ JA Sensenbrenner, IE Hussels, LS Levin: A low birthweight syndrome,? Rieger syndrome. In: Birth defects original article series. Volume 11, Number 2, 1975, pp. 423-426, PMID 819055 .
  5. ↑ SHORT syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Activating PIK3-delta syndrome. In: Orphanet (Rare Disease Database).
  7. ↑ Agammaglobulinaemia, autosomal recessive. In: Orphanet (Rare Disease Database).

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