Pierre Robin Syndrome

Alternative Names

  • Glossoptosis, Micrognathia, And Cleft Palate
  • Pierre Robin Sequence
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal recessive; also an X-linked form and associated with trisomy 18 and other syndromes

Gene Map Locus



Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period [From OMIM].

Epidemiology in the Arab World

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Other Reports


In 1997, Haider and Moosa investigated the presence of survival motor neuron gene and neuronal apoptosis inhibitory protein gene deletions in 17 Arab and 1 Indian families with spinal muscular atrophy (15 type I and 3 type II). In a patient with spinal muscular atrophy type II, exons 7 and 8 of the survival motor neuron gene and exon 5 of the neuronal apoptosis inhibitory protein gene were deleted. This patient also had the Pierre Robin syndrome. No deletion was detected in healthy siblings or the parents.


Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, four children were born with Pierre Robin Sequence.

Saudi Arabia

Aziza et al. (2011) conducted a hospital-based descriptive study during 2002 to 2009 in the Cleft Lip/Palate and Craniofacial Anomalies Registry at King Faisal Specialist Hospital and Research Center (Riyadh). Of the 447 craniofacial patients (male, 242; female, 205), 109 (24%) had only cranial anomalies, 261 (58%) had only facial anomalies and 77 (17%) had both of these conditions. Among facial syndromes, 72 (59%) were observed to have Pierre-Robin sequence.

United Arab Emirates

Hosani and Czeizel (2000) evaluated the pilot dataset [March-May 1998] of the UAE National Congenital Abnormality Registry (NCAR). A total of 4,861 births were recorded in this study period, with a birth prevalence of total congenital anomalies being 30.3/1,000 births. Pierre Robin syndrome was identified in three neonates, resulting in an incidence rate of 0.62/1,000 births.

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