ODONTOID HYPOPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613628
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:0008462) Cervical instability 4 / 7739
2
(HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
3
(HPO:0003467) Atlantoaxial instability 6 / 7739
4
(OMIM) Dystopic os odontoideum 1 / 7739
5
(HPO:0040143) Dystopic os odontoideum 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Craniocervical instability 1 / 7739
8
(OMIM) Secondary spinal cord compression may occur 1 / 7739
9
(OMIM) Excessive rotation of the axis (C2) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum ...
Clinical Description OMIM Stevens et al. (2009) reported a 3-generation family in which 4 individuals had odontoid hypoplasia. The proband was a 16-year old girl who had dislocation of the hips as an infant and mild limitation of elbow supination. Cervical ...