ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

4 OMIM references -
3 associated genes
12 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Bilateral striopallidodentate calcinosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.85)	PDGFB

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Bilateral striopallidodentate calcinosis
	Synonym(s): (no synonyms)		Synonym(s): - BSPDC - Cerebrovascular ferrocalcinosis - Idiopathic basal ganglia calcification

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

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

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Dyssegmental dysplasia, Silverman-Handmaker type		Bilateral striopallidodentate calcinosis
	Very frequent - Abnormal vertebral size / shape - Blue sclerae - Bowed diaphysis / diaphyses / long bones - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death - Umbilical hernia		Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Dilated cerebral ventricles without hydrocephaly - Hepatomegaly / liver enlargement (excluding storage disease) - Intracranial / cerebral calcifications - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Seizures / epilepsy / absences / spasms / status epilepticus - Thrombocytopenia / thrombopenia Frequent - Corneal clouding / opacity / vascularisation - Structural anomalies of the liver and the biliary tract