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20p12.3 microdeletion syndrome

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

1 OMIM reference -
1 associated gene
25 signs/symptoms

20p12.3 microdeletion syndrome

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

BMP2

(UniProt - OMIM)

COL2A1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMP2	(0.79)	COL2A1

Citations in the biomedical literature:

20p12.3 microdeletion syndrome		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Synonym(s): - Del(20)(p12.3) - Monosomy 20p12.3		Synonym(s): (no synonyms)

	Classification (Orphanet): - 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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Hypertelorism - Short stature / dwarfism / nanism

20p12.3 microdeletion syndrome		Spondyloepimetaphyseal dysplasia congenita, Strudwick type
	Very frequent - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Epicanthic folds - Flat cheek bones / malar hypoplasia - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth Occasional - Atrial septal defect / interauricular communication - Broad cheeks / cherub-like / cherubin face - Broad nasal root - Broad nose / nasal bridge - Broad / bifid big toe - Broad / bifid thumb - Dilated cerebral ventricles without hydrocephaly - Helix thickened / sculpted - Hypotonia - Long philtrum - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pectus carinatum - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Autosomal dominant inheritance - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Lordosis - Metaphyseal anomaly - Platyspondyly - Short limbs / micromelia / brachymelia - Short rib cage / thorax Frequent - Abnormal gait - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Genu valgum - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Kyphosis - Myopia - Osteoarthritis - Retinal detachment Occasional - Genu varum - Odontoid hypoplasia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Talipes-varus / metatarsal varus