Sticklers syndrom type 4 og 5
Engelsk navn: Autosomal recessive Stickler syndrome
Definisjon
A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed.
Fra Orphanet
ORPHA: 250984
Klassifiseringsnivå: Subtype of disorder
ICD-10: Q87.5
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
