Details of Disease

General Information of Disease (ID: DISDH5AG)

Disease Name Parietal foramina with cleidocranial dysplasia
Synonyms cleidocranial dysplasia with parietal foramina; PFMCCD; parietal foramina with clavicular hypoplasia; parietal foramina with cleidocranial dysostosis; parietal foramina with cleidocranial dysplasia
Definition
Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISDH5AG: Parietal foramina with cleidocranial dysplasia
Disease Identifiers
MONDO ID
MONDO_0008198
MESH ID
C566825
UMLS CUI
C1868597
OMIM ID
168550
MedGen ID
401479
Orphanet ID
251290
SNOMED CT ID
771338002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MSX2 OT1WDKE1 Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet. 2003 Nov;11(11):892-5. doi: 10.1038/sj.ejhg.5201062.