ODCs

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1 OMIM reference -
1 associated gene
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

1 associated gene
17 signs/symptoms

Autosomal dominant osteosclerosis, Worth type

Osteosclerosis - developmental delay - craniosynostosis

LRP5

Citations in the biomedical literature:

Autosomal dominant osteosclerosis, Worth type		Osteosclerosis - developmental delay - craniosynostosis
	Synonym(s): - Endosteal hyperostosis, Worth type - Worth syndrome		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlargment of jaw / large jaw - Facial palsy - Osteosclerosis / osteopetrosis / bone condensation

Autosomal dominant osteosclerosis, Worth type		Osteosclerosis - developmental delay - craniosynostosis
	Very frequent - Anomalies of the ribs - Clavicle absent / abnormal - Cortical anomaly / thick bone cortical layer - Enlarged diaphysis / diaphyses - Palate exostoses / torus palatinus Frequent - Abnormal vertebral size / shape Occasional - Nystagmus - Prognathism / prognathia - Sensorineural deafness / hearing loss		Very frequent - Brachycephaly / flat occiput - Broad forehead - High forehead - Hypertelorism - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Craniostenosis / craniosynostosis / sutural synostosis Occasional - Cranial hypertension - Facial pain / cephalalgia / migraine - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Visual loss / blindness / amblyopia