ODCs

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1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 4
COMMON SIGNS: 6

2 OMIM references -
4 associated genes
17 signs/symptoms

Spondyloepiphyseal dysplasia congenita

Autosomal recessive Stickler syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL2A1 COL2A1 COL2A1 COL2A1	(0.75) (0.62) (0.52) (0.52)	COL9A1 COL9A3 COL11A1 COL9A2

Citations in the biomedical literature:

Spondyloepiphyseal dysplasia congenita		Autosomal recessive Stickler syndrome
	Synonym(s): - Congenital spondyloepiphyseal dysplasia - SEDC - Spranger-Wiedemann disease		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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Abnormal vertebral size / shape - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Flat face - Myopia - Short stature / dwarfism / nanism

Spondyloepiphyseal dysplasia congenita		Autosomal recessive Stickler syndrome
	Very frequent - Autosomal dominant inheritance - Narrow rib cage / thorax - Short limbs / micromelia / brachymelia - Short neck - Short rib cage / thorax Frequent - Broad forehead - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Lordosis - Osteoarthritis - Restricted joint mobility / joint stiffness / ankylosis - Talipes-varus / metatarsal varus Occasional - Cataract / lens opacification - Glaucoma - Hearing loss / hypoacusia / deafness - Kyphosis - Nystagmus - Retinal detachment - Scoliosis		Very frequent - Autosomal recessive inheritance - Genu valgum - Sensorineural deafness / hearing loss Frequent - Astigmatism - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Platyspondyly - Retinitis pigmentosa / retinal pigmentary changes - Retinopathy - Visual loss / blindness / amblyopia - Vitreous anomalies / hyalitis / persistent vitreous vascularisation