Hypertelorism-Hypospadias Syndrome
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
- ↑ 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 .
- ↑ a b c d Hypertelorism-Hypospadias Syndrome. In: Orphanet (Rare Disease Database).
- ↑ JM Opitz, DW Smith, RL Summitt: Hypertelorism and hypospadias. In: Journal of Pediatrics. 67, 1965, p. 968.
- ↑ 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 .
- ↑ 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
- OPITZ GBBB SYNDROME, AUTOSOMAL DOMINANT. In: Online Mendelian Inheritance in Man . (English)
- OPITZ GBBB SYNDROME, X-LINKED. In: Online Mendelian Inheritance in Man . (English)