Hypertelorism-Hypospadias Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The hypertelorism-hypospadias syndrome or Opitz-G / BBB syndrome is a congenital disease (dysmorphic syndrome) with a combination of hypertelorism , hypospadias and cleft lip and palate .

Synonyms are:

  • BBB syndrome
  • Opitz syndrome
  • Hypertelorism-esophageal anomaly-hypospadias syndrome
  • Opitz G / X Linked BBB Syndrome
  • Opitz-Frias Syndrome

The term Opitz syndrome refers to the first description by the German-American human geneticist John Marius Opitz .

distribution

The frequency is given as 1–9 per 100,000, inheritance is partly autosomal dominant , x-linked - recessive .

root cause

About 80% of X-linked cases are caused by mutations in MID 1 - gene causes. The gene codes for the midline 1 protein.

Clinical manifestations

Criteria are:

  • Pronounced hypertelorism with a broad nose
  • Hypospadias without cryptorchidism
  • Auricular dysplasia
  • Cleft lip and palate or cleft palate
  • Diaphragmatic hernia

rarely can also anal atresia , Larynxatresie , a vesicoureteral reflux , heart defects, or iris coloboma occur.

diagnosis

A prenatal diagnosis by ultrasound or reliably by chromosome analysis is possible.

Differential diagnosis

To be distinguished are u. a. the Graham-Cox syndrome , Pallister Hall syndrome or the hypertelorism of the Teebi type .

Prospect of healing

The prognosis depends on the severity, which can be very variable, even within a family.

history

The term Opitz syndrome was initially used to describe two different diseases and differentiated as G syndrome and BBB syndrome. Since the realization that it is just a disease, one speaks of the Opitz-G / BBB syndrome.

literature

  • SY Parashar, PJ Anderson, TC Cox, N. McLean, DJ David: Multidisciplinary management of Opitz G BBB syndrome. In: Annals of plastic surgery. Vol. 55, No. 4, October 2005, ISSN  0148-7043 , pp. 402-407, PMID 16186708 .

Individual evidence

  1. ↑ a b G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.): The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d Hypertelorism-Hypospadias Syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ JM Opitz, DW Smith, RL Summitt: Hypertelorism and hypospadias. In: Journal of Pediatrics. 67, 1965, p. 968.
  4. ↑ J. Taylor, S. Aftimos: Congenital diaphragmatic hernia is a feature of Opitz G / BBB syndrome. In: Clinical dysmorphology. Vol. 19, No. 4, October 2010, ISSN  1473-5717 , pp. 225-226, doi: 10.1097 / MCD.0b013e32833b2bd3 , PMID 20823703 .
  5. ↑ YK Cheng, J. Huang, KM Law, YM Chan, TY Leung, KW Choy: Prenatal diagnosis of maternally inherited X-linked Opitz G / BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. In: Clinica Chimica Acta . Vol. 436, September 2014, ISSN  1873-3492 , pp. 140-142, doi: 10.1016 / j.cca.2014.05.006 , PMID 24863803 .

Web links