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Dental ankylosis

1 associated gene
6 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Metaphyseal chondrodysplasia, Jansen type

1 OMIM reference -
1 associated gene
20 signs/symptoms

Dental ankylosis

Metaphyseal chondrodysplasia, Jansen type

PTH1R

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	PTH1R

Citations in the biomedical literature:

Dental ankylosis		Metaphyseal chondrodysplasia, Jansen type
	Synonym(s): - Ankylosis of teeth		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare odontologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Diseases of the digestive system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references 1 MeSH reference: D020254		External references: 1 OMIM reference - 1 MeSH reference: C537564


COMMON SIGNS	- Clinodactyly of fifth finger

Dental ankylosis		Metaphyseal chondrodysplasia, Jansen type
	Very frequent - Anodontia / oligodontia / hypodontia - Autosomal dominant inheritance Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Enamel anomaly Occasional - Prognathism / prognathia		Very frequent - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Frontal bossing / prominent forehead - Hypertelorism - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Enlarged diaphysis / diaphyses - Hypercalcemia - Hypoparathyroidy - Hypoplastic mandibula / partial absence of the mandibula - Narrow rib cage / thorax - Osteosclerosis / osteopetrosis / bone condensation - Phosphocalcic metabolism anomalies - Short hand / brachydactyly Occasional - Sensorineural deafness / hearing loss