PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES

General Information (adopted from Orphanet):

Synonyms, Signs: SKELETAL DYSPLASIA RELATED TO CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA, MILD
Number of Symptoms 16
OrphanetNr:
OMIM Id: 602196
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000201) Pierre-Robin sequence 20 / 7739
2
(HPO:0000347) Micrognathia 426 / 7739
3
(HPO:0000465) Webbed neck 81 / 7739
4
(HPO:0001965) Abnormality of the scalp 10 / 7739
5
(HPO:0000175) Cleft palate 349 / 7739
6
(HPO:0006631) Hypoplastic distal segments of scapulae 1 / 7739
7
(HPO:0001382) Joint hypermobility 231 / 7739
8
(HPO:0000767) Pectus excavatum 244 / 7739
9
(HPO:0000772) Abnormality of the ribs 146 / 7739
10
(HPO:0001324) Muscle weakness 859 / 7739
11
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
(HPO:0010547) Muscle flaccidity 466 / 7739
13
(HPO:0001252) Muscular hypotonia 990 / 7739
14
(OMIM) Pierre Robin-type cleft palate 1 / 7739
15
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
(OMIM) Low-set hairline 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a 5-generation family with multiple musculoskeletal anomalies, Stalker and Zori (1997) described an apparently new malformation syndrome with autosomal dominant inheritance. The features included the Pierre Robin-type cleft palate (261800), pectus excavatum, rib anomalies, and hypoplasia of ...