MCID: ISL075
MIFTS: 11

Isolated Pierre Robin Sequence

Aliases & Classifications for Isolated Pierre Robin Sequence

MalaCards integrated aliases for Isolated Pierre Robin Sequence:

Name: Isolated Pierre Robin Sequence 25
Glossoptosis, Micrognathia, and Cleft Palate 25
Pierre Robin Syndrome 25
Pierre-Robin Syndrome 25
Robin Sequence 25
Robin Syndrome 25

Summaries for Isolated Pierre Robin Sequence

Genetics Home Reference : 25 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 blockage (obstruction) of the airways. Most people with Pierre Robin sequence are also born with an opening in the roof of the mouth (a cleft palate). This feature is not generally considered necessary for diagnosis of the condition, although there is some disagreement among doctors.

MalaCards based summary : Isolated Pierre Robin Sequence, also known as glossoptosis, micrognathia, and cleft palate, is related to robin sequence with cleft mandible and limb anomalies and corpus callosum, agenesis of, with facial anomalies and robin sequence. Affiliated tissues include tongue.

Related Diseases for Isolated Pierre Robin Sequence

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



Diseases related to Isolated Pierre Robin Sequence

Symptoms & Phenotypes for Isolated Pierre Robin Sequence

Drugs & Therapeutics for Isolated Pierre Robin Sequence

Search Clinical Trials , NIH Clinical Center for Isolated Pierre Robin Sequence

Genetic Tests for Isolated Pierre Robin Sequence

Anatomical Context for Isolated Pierre Robin Sequence

MalaCards organs/tissues related to Isolated Pierre Robin Sequence:

39
Tongue

Publications for Isolated Pierre Robin Sequence

Articles related to Isolated Pierre Robin Sequence:

id Title Authors Year
1
Do patients with isolated Pierre Robin Sequence have worse outcomes after cleft palate repair: A systematic review. ( 26187812 )
2015
2
Use of External Distractors and the Role of Imaging Prior to Mandibular Distraction in Infants With Isolated Pierre Robin Sequence and Stickler Syndrome. ( 26540157 )
2015
3
Deciphering the cis-regulatory landscape of SOX9 implicated in craniofacial development and isolated Pierre Robin sequence. ( 25043979 )
2014
4
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect. ( 23532965 )
2013
5
Facial profile evaluation of isolated pierre robin sequence. ( 21214326 )
2012
6
To distract or not to distract: an algorithm for airway management in isolated Pierre Robin sequence. ( 15083010 )
2004
7
Airway management in patients with isolated Pierre Robin sequence during the first year of life. ( 12867857 )
2003
8
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence. ( 12012224 )
2002
9
Neurophysiological brainstem investigations in isolated Pierre Robin sequence. ( 10854801 )
2000

Variations for Isolated Pierre Robin Sequence

Expression for Isolated Pierre Robin Sequence

Search GEO for disease gene expression data for Isolated Pierre Robin Sequence.

Pathways for Isolated Pierre Robin Sequence

GO Terms for Isolated Pierre Robin Sequence

Sources for Isolated Pierre Robin Sequence

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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