Title: Opitz Syndrome

Authors: Dr Niharika Nitya, Dr Ghazi Sharique Ahmad, Dr K.Shambhunath

 DOI: https://dx.doi.org/10.18535/jmscr/v7i8.49

Abstract

Introduction

Opitz syndrome is a genetic condition characterized by widely spaced eyes and, in males, hypospadias (an abnormal opening of the urethra on the underside of the penis).

Opitz is also known as oculo-genito-laryngeal syndrome and BBB/G compound syndrome.

About a quarter of all children with this syndrome have a cleft lip or palate. The syndrome can also include other facial abnormalities, such as a small jaw, ear abnormalities and a prominent forehead. Respiratory problems and congenital heart defects are also more common in children with Opitz syndrome.

The syndrome’s impact on intelligence varies and depends on the severity of associated brain malformations.

References

  1. Opitz G/BBB syndrome. Genetics Home Reference. January 2015;  http://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome.
  2. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. Gene Reviews. February 28, 2013;  https://www.ncbi.nlm.nih.gov/books/NBK1523.
  3. Meroni G. X-Linked Opitz G/BBB Syndrome. Gene Reviews. July 28, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1327/.
  4. MID1. Genetics Home Reference. January 2015; http://ghr.nlm.nih.gov/gene/MID1.
  5. Germana Meroni. X-linked Opitz G/BBB syndrome. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/x-linked-opitz-gbbb-syndrome/.
  6. Opitz JM, Smith DW, Summitt RL: Hypertelorism and hypospadias (abst.), J Pediatr 67:968, 1995.
  7. Opitz JM, et al :The G syndrome of multiple congenital anomalies,  Birth Defects 5:95,1969.
  8. Gonzales CH, Hermann J, Opitz JM: The hypertelorism-hypospadias (BBB) syndrome, Eur J Pediatr 12:51, 1977.
  9. Brooks JK, et al: Opitz (BBB/G) syndrome: Oral manifestations, Am J Med Genet 43:595, 1992.
  10. McDonald-McGinn DM: Autosomal dominant “Opitz” GBBB syndrome due to a 22q11.2 deletion, Am J Med Genet 46:706, 1993.

Corresponding Author

Dr Niharika Nitya

PGT 3rd year, Dept. of Paediatrics, KMCH