Isolated Pierre Robin syndrome

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(27.8%)		 23532965
 Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.
Amarillo IE, Dipple KM, Quintero-Rivera F.
Am J Med Genet A. 2013;161A(5):1167-72.
Glossoptosis
SOX9
Chromosome Deletion Chromosomes, Human, Pair 17 Females Fibromatosis, Gingival Homo sapiens Hypertrichosis Infant Oligonucleotide Array Sequence Analysis Pierre Robin Syndrome SOX9 Transcription Factor
        

Phenotype(s) retrieved from Orphanet

    Total: 6

HPO ID Term Frequency
HP:0000162 Glossoptosis Very frequent (99-80%)
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000600 Abnormality of the pharynx Frequent (79-30%)
HP:0002643 Neonatal respiratory distress Frequent (79-30%)
HP:0002781 Upper airway obstruction Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SOX9 SRY-box 9 6662