ODCs

Cytoscape Web

Click node...

Craniodiaphyseal dysplasia

2 OMIM references -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

2 OMIM references -
2 associated genes
15 signs/symptoms

Craniodiaphyseal dysplasia

Sclerosteosis

SOST	(UniProt - OMIM)		LRP4	(UniProt - OMIM)
			SOST	(UniProt - OMIM)


COMMON GENES	SOST

Citations in the biomedical literature:

Craniodiaphyseal dysplasia		Sclerosteosis
	Synonym(s): (no synonyms)		Synonym(s): - Cortical hyperostosis - syndactyly

	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): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537525


COMMON SIGNS	- Broad nose / nasal bridge - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Enlarged diaphysis / diaphyses - Enlargment of jaw / large jaw - Optic nerve anomaly / optic atrophy / anomaly of the papilla

Craniodiaphyseal dysplasia		Sclerosteosis
	Very frequent - Coarse face - Depressed nasal bridge - Frontal bossing / prominent forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Rib structure anomalies - Short stature / dwarfism / nanism Frequent - Conductive deafness / hearing loss - External auditory canal atresia / stenosis / agenesis Occasional - Autosomal dominant inheritance		Very frequent - Autosomal recessive inheritance - Cortical anomaly / thick bone cortical layer - Dysplastic / thick / grooved fingernails - Irregular length / shape of fingers - Osteosclerosis / osteopetrosis / bone condensation - Syndactyly of fingers / interdigital palm - Tall stature / gigantism / growth acceleration Frequent - Facial palsy - Ptosis - Sensorineural deafness / hearing loss