MCID: PRR011
MIFTS: 15

Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

MalaCards integrated aliases for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies:

Name: Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies 56 52
Skeletal Dysplasia Related to Campomelic Dysplasia 56 52
Campomelic Dysplasia, Mild 56 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pierre robin sequence with pectus excavatum and rib and scapular anomalies:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

MalaCards based summary : Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies, is also known as skeletal dysplasia related to campomelic dysplasia. Affiliated tissues include bone, and related phenotypes are pectus excavatum and muscular hypotonia

More information from OMIM: 602196

Related Diseases for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Symptoms & Phenotypes for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Human phenotypes related to Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 31 HP:0000767
2 muscular hypotonia 31 HP:0001252
3 micrognathia 31 HP:0000347
4 cleft palate 31 HP:0000175
5 generalized hypotonia 31 HP:0001290
6 webbed neck 31 HP:0000465
7 abnormality of the ribs 31 HP:0000772
8 joint hypermobility 31 HP:0001382
9 pierre-robin sequence 31 HP:0000201
10 abnormality of the scalp 31 HP:0001965
11 hypoplastic distal segments of scapulae 31 HP:0006631

Symptoms via clinical synopsis from OMIM:

56
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
hypoplastic distal segments of scapulae
rib anomalies

Head And Neck Neck:
webbed neck

Skeletal:
joint hyperextensibility

Head And Neck Mouth:
pierre robin-type cleft palate

Head And Neck Face:
micrognathia

Neurologic Central Nervous System:
hypotonia

Skin Nails Hair Hair:
low-set hairline

Clinical features from OMIM:

602196

Drugs & Therapeutics for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Search Clinical Trials , NIH Clinical Center for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies

Genetic Tests for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Anatomical Context for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

MalaCards organs/tissues related to Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies:

40
Bone

Publications for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Articles related to Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies:

# Title Authors PMID Year
1
Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. 56
15726498 2005
2
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia. 56
15717285 2005
3
The mildest form of campomelic dysplasia. 56
15578585 2005
4
The phenotype of survivors of campomelic dysplasia. 56
12161603 2002
5
Dominant transmission of a previously unidentified 13/17 translocation in a five-generation family with Robin cleft and other skeletal defects. 56
11746016 2001
6
Variable expression of rib, pectus, and scapular anomalies with Robin-type cleft palate in a 5-generation family: a new syndrome? 56
9415678 1997
7
Robin sequence with facial and digital anomalies in two half-brothers by the same mother. 56
1897570 1991

Variations for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Expression for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Search GEO for disease gene expression data for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies.

Pathways for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

GO Terms for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

Sources for Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular...

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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