STERNUM, PREMATURE OBLITERATION OF SUTURES OF

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 184800
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000347) Micrognathia 426 / 7739
3
(HPO:0006590) Premature sternal synostosis 1 / 7739
4
(HPO:0000879) Short sternum 16 / 7739
5
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
6
(OMIM) Depressed lower sternum 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Hypoplastic or prematurely closed sternal sutures 1 / 7739
9
(OMIM) Acute angulation of sternum at angle of Louis 1 / 7739
10
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Currarino and Silverman (1958) reported cases in which the sternal sutures were hypoplastic or closed prematurely leading to a characteristic deformity of the sternum which was abnormally short with an acute angulation in the normal position of the ...