MCID: PRR029
MIFTS: 19

Pierre Robin Syndrome and Oligodactyly

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Pierre Robin Syndrome and Oligodactyly

MalaCards integrated aliases for Pierre Robin Syndrome and Oligodactyly:

Name: Pierre Robin Syndrome and Oligodactyly 56 52
Robin Sequence and Oligodactyly 56 74 52
Pierre Robin Sequence-Oligodactyly Syndrome 58
Robin Sequence-Oligodactyly Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? same as postaxial acrofacial dysostosis syndrome (263750)


HPO:

31
pierre robin syndrome and oligodactyly:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 172880
MESH via Orphanet 44 C535688
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1868309
Orphanet 58 ORPHA3104
MedGen 41 C1868309

Summaries for Pierre Robin Syndrome and Oligodactyly

MalaCards based summary : Pierre Robin Syndrome and Oligodactyly, also known as robin sequence and oligodactyly, is related to isolated pierre robin sequence and postaxial acrofacial dysostosis. Affiliated tissues include tongue and bone, and related phenotypes are abnormality of the ulna and micrognathia

Wikipedia : 74 Pierre Robin sequence[a] (/pjɛər rɔːˈbæ̃/; abbreviated PRS) is a congenital defect observed in humans... more...

More information from OMIM: 172880

Related Diseases for Pierre Robin Syndrome and Oligodactyly

Diseases related to Pierre Robin Syndrome and Oligodactyly via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated pierre robin sequence 10.3
2 postaxial acrofacial dysostosis 10.2
3 acrofacial dysostosis 10.2
4 dysostosis 10.2

Symptoms & Phenotypes for Pierre Robin Syndrome and Oligodactyly

Human phenotypes related to Pierre Robin Syndrome and Oligodactyly:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ulna 58 31 hallmark (90%) Very frequent (99-80%) HP:0002997
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 glossoptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000162
4 hand oligodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001180
5 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
6 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
7 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
8 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
9 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
10 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
11 pierre-robin sequence 31 HP:0000201

Symptoms via clinical synopsis from OMIM:

56
Mouth:
micrognathia
robin sequence
retroglossia
u-shaped posterior cleft palate

Limbs:
oligodactyly

Clinical features from OMIM:

172880

Drugs & Therapeutics for Pierre Robin Syndrome and Oligodactyly

Search Clinical Trials , NIH Clinical Center for Pierre Robin Syndrome and Oligodactyly

Genetic Tests for Pierre Robin Syndrome and Oligodactyly

Anatomical Context for Pierre Robin Syndrome and Oligodactyly

MalaCards organs/tissues related to Pierre Robin Syndrome and Oligodactyly:

40
Tongue, Bone

Publications for Pierre Robin Syndrome and Oligodactyly

Articles related to Pierre Robin Syndrome and Oligodactyly:

# Title Authors PMID Year
1
Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome. 56 61
3425604 1987
2
Robin sequence and oligodactyly in mother and son. 61 56
3777025 1986
3
Postaxial acrofacial dysostosis syndrome. 56
501501 1979

Variations for Pierre Robin Syndrome and Oligodactyly

Expression for Pierre Robin Syndrome and Oligodactyly

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

Pathways for Pierre Robin Syndrome and Oligodactyly

GO Terms for Pierre Robin Syndrome and Oligodactyly

Sources for Pierre Robin Syndrome and Oligodactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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