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Stickler syndrome type 2

1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Stickler syndrome type 2

Kniest dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	COL11A1	(0.52)	COL2A1

Citations in the biomedical literature:

Stickler syndrome type 2		Kniest dysplasia

	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 (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537493		External references: 1 OMIM reference - 1 MeSH reference: C537207


COMMON SIGNS	- Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Myopia - Retinal detachment - Retinopathy - Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Stickler syndrome type 2		Kniest dysplasia
	Very frequent - Corneal clouding / opacity / vascularisation - Sensorineural deafness / hearing loss		Very frequent - Autosomal dominant inheritance - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mesomelic micromelia - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Osteoarthritis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint stiffness / ankylosis - Rhizomelic micromelia - Scoliosis - Short rib cage / thorax - Short stature / dwarfism / nanism - Wide rib cage / thorax Frequent - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Proptosis / exophthalmos - Round face Occasional - Glaucoma - Glossoptosis - Lens dislocation / luxation / subluxation / ectopia lentis - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Tracheal atresia / stenosis - Tracheomalacia / tracheobronchomalacia