Isolated Pierre Robin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PIERRE ROBIN SEQUENCE
GLOSSOPTOSIS, MICROGNATHIA, AND CLEFT PALATE
Isolated Pierre Robin sequence
Number of Symptoms 14
OrphanetNr: 718
OMIM Id: 261800
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
2
 (HPO:0000347) Micrognathia 426 / 7739
3
 (HPO:0000162) Glossoptosis Very frequent [Orphanet] 26 / 7739
4
 (HPO:0000600) Abnormality of the pharynx Frequent [Orphanet] 22 / 7739
5
 (HPO:0000175) Cleft palate 349 / 7739
6
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
7
 (HPO:0000201) Pierre-Robin sequence 20 / 7739
8
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
9
 (HPO:0001648) Cor pulmonale 16 / 7739
10
 (HPO:0002643) Neonatal respiratory distress 22 / 7739
11
 (HPO:0002781) Upper airway obstruction 7 / 7739
12
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
13
 (OMIM) Neonatal feeding problems 1 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Affected brothers were reported by Smith and Stowe (1961) and pictured by McKusick et al. (1962). (It is possible that these brothers had either the Wagner syndrome (143200) or the Stickler syndrome (108300).)

Sachtleben (1964) also ...
Molecular genetics OMIM In a 4-generation family with Pierre Robin sequence mapping to chromosome 17q24 (designated family F1), Benko et al. (2009) sequenced 4 candidate genes, SOX9, KCNJ2, KCNJ16 (605722), and MAP2K6 (601254), but did not find any gross genomic alterations ...