Systemic Features: Short stature, cleft palate, stiff joints, and conductive hearing loss are characteristic extraocular features of Kniest dysplasia. [disorders.eyes.arizona.edu]

exudates and deposits 362.83 Retinal edema 362.84 Retinal ischemia 362.85 Retinal nerve fiber bundle defects 362.89 Other retinal disorders 362.9 Unspecified retinal disorder [healthprovidersdata.com]

Skeletal survey revealed multiple wormian bones, hypoplastic facial bones and mandible, narrow thorax with wavy ribs, narrow ilia, and coxa valga with slight broadening of the proximal femora, findings of which were individually minor, but the assemblage [ncbi.nlm.nih.gov]

arm of chromosome 1. [clinicalgate.com]

Mild psychomotor retardation is sometimes seen. High levels of keratin sulfate are found in the urine. Genetics Mutations in the COL2A1 gene (12q13.11-q13.2) coding for type II collagen is responsible for this autosomal dominant disorder. [disorders.eyes.arizona.edu]

The cardinal features included hyperextensibility of the joints, vitreoretinal degeneration with cataracts, and facial abnormalities, comprising hypertelorism, prominent eyes, downslanting of the palpebral fissures, mid-face recession with a short nose [ncbi.nlm.nih.gov]

Robin syndrome with fetal chondrodysplasia, is an autosomal recessive disorder characterized by a single-base mutation in the COL11A2 gene, which substitutes glutamate for glycine. 56 In the past, it was often misdiagnosed as Stickler syndrome. [clinicalgate.com]

Typical fundus findings combined with night blindness and electroretinogram abnormalities permited the diagnosis of Goldmann-Favre vitreoretinal degeneration. [ncbi.nlm.nih.gov]