parietal foramina with cleidocranial dysplasia
Findings
No curated finding names parietal foramina with cleidocranial dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008198), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dermoid cystHPOHP:0025247
- MacrocephalyHPOHP:0000256
- MicrotiaHPOHP:0008551
- Short claviclesHPOHP:0000894
- Widely patent fontanelles and suturesHPOHP:0004492
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MSX2HGNC:7392
- Definitive · G2P · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: parietal foramina with cleidocranial dysplasia
- Also called
- parietal foramina with cleidocranial dysostosis