Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. Disease data Classification Malformation syndrome Synonyms Der Kaloustian-Jarudi-Khoury syndrome Degeneracja móżdżkowo-rdzeniowa - dystrofia rogówki Zespół Der Kaloustiana, Jarudi i Khoury'ego ORPHA code 3177 OMIM code 271310 ICD10 code G11.1 ICD11 code 9A70.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl