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Osteopathia striata - cranial sclerosis

1 OMIM reference -
1 associated gene
32 signs/symptoms

PROTEIN INTERACTIONS: 1

Gardner syndrome

1 OMIM reference -
1 associated gene
No signs/symptoms info

Osteopathia striata - cranial sclerosis

Gardner syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AMER1	(0.63)	APC

Citations in the biomedical literature:

Osteopathia striata - cranial sclerosis		Gardner syndrome
	Synonym(s): - Hyperostosis generalisata with striations - Robinow-Unger syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C536053		External references: 1 OMIM reference - 1 MeSH reference: D005736

Osteopathia striata - cranial sclerosis
	Very frequent - Autosomal dominant inheritance - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rough trabeculation of bone Frequent - Broad nasal root - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Delayed dentition / eruption of teeth / lack of eruption of teeth - Flat face - Frontal bossing / prominent forehead - High vaulted / narrow palate - Large fontanelle / delayed fontanelle closure - Macrocephaly / macrocrania / megalocephaly / megacephaly - Scoliosis Occasional - Asymmetric rib cage / thorax - Brachycephaly / flat occiput - Cataract / lens opacification - Enlargment of jaw / large jaw - Epicanthic folds - Facial palsy - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Intellectual deficit / mental / psychomotor retardation / learning disability - Intracranial / cerebral calcifications - Lordosis - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Spina bifida occulta - Stillbirth / neonatal death
Gardner syndrome
(no data available)