PARIETAL FORAMINA

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIUM BIFIDUM, HEREDITARY PARIETAL FORAMINA 1, INCLUDED
CRANIUM BIFIDUM OCCULTUM
PFM1, INCLUDED
CATLIN MARKS
FORAMINA PARIETALIA PERMAGNA
PARIETAL FORAMINA, SYMMETRIC
FPP
PFM
Number of Symptoms 7
OrphanetNr:
OMIM Id: 168500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002084) Encephalocele 70 / 7739
2
(HPO:0000175) Cleft palate 349 / 7739
3
(HPO:0000204) Cleft upper lip 193 / 7739
4
(HPO:0002695) Symmetrical, oval parietal bone defects 5 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0002315) Headache 175 / 7739
7
(HPO:0007385) Aplasia cutis congenita of scalp 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Parietal foramina are symmetric, oval defects in the parietal bone situated on each side of the sagittal suture and separated from each other by a narrow bridge of bone. The size of the openings decrease with age and ...
Molecular genetics OMIM In affected members of 3 unrelated families with PFM1, Wilkie et al. (2000) identified 3 different heterozygous mutations in the MSX2 gene (123101.0002-123101.0004). One was a deletion of approximately 206 kb including the entire gene, and the others ...