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Stickler syndrome type 1

2 OMIM references -
1 associated gene
22 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 11

Kniest dysplasia

1 OMIM reference -
1 associated gene
38 signs/symptoms

Stickler syndrome type 1

Kniest dysplasia

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL2A1

Citations in the biomedical literature:

Stickler syndrome type 1		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537207


COMMON SIGNS	- Autosomal dominant inheritance - Cataract / lens opacification - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Epiphyseal anomaly - Myopia - Osteoarthritis - Platyspondyly - Proptosis / exophthalmos - Retinal detachment - Vitreous anomalies / hyalitis / persistent vitreous vascularisation

Stickler syndrome type 1		Kniest dysplasia
	Very frequent - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Long philtrum - Short / small nose Frequent - Articular / joint pain / arthralgia - Epiphyseal vertebral anomaly - Hyperextensible joints / articular hyperlaxity - Marfanoid morphotype - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Sensorineural deafness / hearing loss Occasional - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia		Very frequent - Depressed nasal bridge - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Joint / articular deformation - Kyphosis - Lordosis - Mesomelic micromelia - Metaphyseal anomaly - Mid-facial hypoplasia / short / small midface - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Retinopathy - 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 - 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