MCID: PRR016
MIFTS: 36

Pierre Robin Syndrome malady

Rare diseases, Eye diseases, Fetal diseases categories

Summaries for Pierre Robin Syndrome

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NIH Rare Diseases:43 Pierre robin sequence is a condition present at birth, in which the infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. pierre robin sequence may occur alone or be associated with a variety of other signs and symptoms, such as bifid uvula (a split in the soft flap of tissue that hangs from the back of the mouth), cleft palate, conductive hearing loss, recurring ear infections, eye anomalies (e.g., hypermetropia, myopia, astigmatism), heart defects, joint and skeletal anomalies, central nervous system defects (e.g., language and neurodevelopmental delay, epilepsy, hypotonia, and hydrocephalus) and genitourinary defects (e.g., undescended testes, hydronephrosis, and hydrocele).  the exact causes of pierre robin syndrome are unknown, however it may occur as part of a variety of different genetic syndromes.   last updated: 7/27/2012

MalaCards based summary: Pierre Robin Syndrome, also known as isolated pierre robin sequence, is related to catel-manzke syndrome and obstructive sleep apnea, and has symptoms including glossoptosis, cleft palate and micrognathia. An important gene associated with Pierre Robin Syndrome is SOX9 (SRY (sex determining region Y)-box 9). Affiliated tissues include tongue, eye and heart.

Genetics Home Reference:23 Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw (micrognathia), a tongue that is placed further back than normal (glossoptosis), and an opening in the roof of the mouth (a cleft palate). This condition is described as a "sequence" because one of its features, an underdeveloped lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms. Specifically, having an abnormally small jaw affects placement of the tongue and formation of the palate, leading to glossoptosis and cleft palate.

OMIM:47 Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and... (261800) more...

Wikipedia:65 Pierre Robin syndrome (abbreviated to PRS, and also known as Pierre Robin malformation, Pierre Robin... more...

Aliases & Classifications for Pierre Robin Syndrome

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Sources:
47OMIM, 11diseasecard, 23Genetics Home Reference, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 28ICD10 via Orphanet
See all sources

Pierre Robin Syndrome, Aliases & Descriptions:

Name: Pierre Robin Syndrome 47 11 23
Isolated Pierre Robin Sequence 43 23 49
Glossoptosis, Micrognathia, and Cleft Palate 43 23
Isolated Pierre Robin Syndrome 43 49
 
Pierre Robin Sequence 43 45
Pierre-Robin Syndrome 43 23
Robin Sequence 23
Robin Syndrome 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

49
isolated pierre robin sequence:
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy


External Ids:

OMIM47 261800
Orphanet49 718
ICD10 via Orphanet28 Q87.0

Related Diseases for Pierre Robin Syndrome

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Diseases related to Pierre Robin Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1catel-manzke syndrome10.7
2obstructive sleep apnea10.7
3sleep apnea10.7
4mental retardation10.7
5weissenbacher-zweymuller syndrome10.6
6esophagitis10.6
7laryngitis10.6
8pierre robin sequence with pectus excavatum and rib and scapular anomalies10.6
9thrombocytopenia robin sequence10.5
10chitayat meunier hodgkinson syndrome10.5
11radial defect robin sequence10.5
12stickler syndrome, type i10.5
13gastroesophageal reflux10.5
14pharyngitis10.5
15distal arthrogryposis10.5
16cerebro-costo-mandibular syndrome10.5
17congenital microgastria10.5
18robin sequence with cleft mandible and limb anomalies10.4
19tarp syndrome10.4
20pierre robin syndrome skeletal dysplasia polydactyly10.4
21cor pulmonale10.4
22intellectual disability-brachydactyly-pierre robin syndrome10.4
23short stature robin sequence cleft mandible hand anomalies clubfoot10.3
24congenital disorder of glycosylation, type it10.3
25stickler syndrome, type ii10.3
26marshall syndrome10.3
27stickler syndrome, type iii10.3
28otospondylomegaepiphyseal dysplasia10.3
29crouzon syndrome10.3
30apert syndrome10.3
31campomelic dysplasia10.3
32velocardiofacial syndrome10.3
33aicardi syndrome10.3
34osteopathia striata with cranial sclerosis10.3
35van der woude syndrome10.3
36ectodermal dysplasia10.3
37neurofibromatosis10.3
38radioulnar synostosis10.3
39esophageal atresia10.3
40tooth agenesis10.3
41congenital diaphragmatic hernia10.3
42oligohydramnios10.3
43otitis media10.3
44periodontitis10.3
45synostosis10.3
46amniotic band syndrome10.3
47cerebellar hypoplasia10.3
48congenital nonprogressive myopathy with moebius and robin sequences10.3
49illum syndrome10.3
50left ventricular noncompaction10.3

Graphical network of the top 20 diseases related to Pierre Robin Syndrome:



Diseases related to pierre robin syndrome

Symptoms for Pierre Robin Syndrome

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Symptoms by clinical synopsis from OMIM:

261800

Clinical features from OMIM:

261800

Symptoms:

 49
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glossoptosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anomaly of the pharynx/pharyngeal anomaly
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction

HPO human phenotypes related to Pierre Robin Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 glossoptosis hallmark (90%) HP:0000162
2 cleft palate hallmark (90%) HP:0000175
3 micrognathia hallmark (90%) HP:0000347
4 abnormality of the pharynx typical (50%) HP:0000600
5 respiratory insufficiency typical (50%) HP:0002093
6 autosomal recessive inheritance HP:0000007
7 glossoptosis HP:0000162
8 cleft palate HP:0000175
9 pierre-robin sequence HP:0000201
10 micrognathia HP:0000347
11 cor pulmonale HP:0001648
12 neonatal respiratory distress HP:0002643
13 upper airway obstruction HP:0002781
14 feeding difficulties in infancy HP:0008872

Drugs & Therapeutics for Pierre Robin Syndrome

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Drug clinical trials:

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Genetic Tests for Pierre Robin Syndrome

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Anatomical Context for Pierre Robin Syndrome

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MalaCards organs/tissues related to Pierre Robin Syndrome:

33
Tongue, Eye, Heart, Testes, Lung

Animal Models for Pierre Robin Syndrome or affiliated genes

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Publications for Pierre Robin Syndrome

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Articles related to Pierre Robin Syndrome:

idTitleAuthorsYear
1
Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome. (25376137)
2014
2
Congenital hypothyroidism associated with neonatal tooth, Pierre-Robin syndrome and congenital heart defects. (20020575)
2009
3
Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination. (17021725)
2006
4
Anaplastic astrocytoma of an oncocytic type occurring in the cerebellar vermis in Pierre Robin syndrome--case report. (1282685)
1992
5
Pierre Robin syndrome combined with unilateral choanal atresia. (3118298)
1987
6
Cor pulmonale in severe Pierre Robin syndrome. (7355014)
1980
7
Pierre Robin syndrome with congenital hepatic fibrosis. (1205578)
1975
8
Cor pulmonale in the Pierre Robin syndrome. (4441125)
1974
9
Stickler syndrome in a pedigree of Pierre Robin syndrome. (4198747)
1973
10
ON THE PATHOGENESIS AND THERAPY OF PIERRE ROBIN SYNDROME]. (14293686)
1964

Variations for Pierre Robin Syndrome

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Expression for genes affiliated with Pierre Robin Syndrome

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Search GEO for disease gene expression data for Pierre Robin Syndrome.

Pathways for genes affiliated with Pierre Robin Syndrome

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Compounds for genes affiliated with Pierre Robin Syndrome

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GO Terms for genes affiliated with Pierre Robin Syndrome

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Products for genes affiliated with Pierre Robin Syndrome

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  • Antibodies
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  • Kits and Assays

Sources for Pierre Robin Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet