Spinocerebellar ataxia dysmorphism
Overview
Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance
Symptoms
* Rough hair * Thick hair * Slightly droopy eyelids * Thick lips * Down-curved corners of mouth * Dysarthria * Delayed psychomotor development * Scoliosis * Foot deformities * Ataxia * Coarse face * Wide forehead * Small nose * Anteverted nostrils * Ataxia * Reduced reflexes * Reduced muscle tone * Cerebellar atrophy * Nystagmus * Epicanthic folds * Hyperextensible joints * Increased carrying angle of elbows * Flat foot * Osteoporosis * Hyperelastic foot * Coarse hair * Mental retardation * Enlarged head * Low set ears * Optic disc anomaly * Short stature * Spina bifida occulta
Causes
* Anteverted nostrils * Ataxia * Ataxia * Cerebellar atrophy * Coarse face * Coarse hair * Dysarthria * Enlarged head * Flat foot * Foot deformities * Hyperextensible joints * Low set ears * Mental retardation * Nystagmus * Osteoporosis * Reduced muscle tone * Rough hair * Scoliosis * Short stature * Thick hair