Zentrum für seltene genetische Syndrome und angeborene Fehlbildungen am Universitätsklinikum Schleswig-Holstein, Campus Lübeck Assigned diseases:
In the following you will find the diseases that are treated in this facility:
Alström syndrome
Angelman syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2
Autosomal dominant cerebellar ataxia
Beckwith-Wiedemann syndrome
Bowen-Conradi syndrome
Cartilage-hair hypoplasia
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Coffin-Siris syndrome
Cone rod dystrophy
Congenital limb malformation
Cornelia de Lange syndrome
Costello syndrome
Dejerine-Sottas syndrome
Diamond-Blackfan anemia
Epilepsy syndrome
External auditory canal atresia-vertical talus-hypertelorism syndrome
Feingold syndrome
Fibrodysplasia ossificans progressiva
Fragile X syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Hereditary ataxia
Hereditary motor and sensory neuropathy type 5
Hereditary spastic paraplegia
Huntington disease
KBG syndrome
Kabuki syndrome
Muscular dystrophy
Noonan syndrome
Prader-Willi syndrome
Primary bone dysplasia
Rare epilepsy
Rare genetic epilepsy
Refsum disease
Retinitis pigmentosa
Rett syndrome
Shwachman-Diamond syndrome
Silver-Russell syndrome
Temple syndrome
Treacher-Collins syndrome
Uniparental disomy of chromosome 14
Uniparental disomy of chromosome 15
Uniparental disomy of chromosome 7
Wiedemann-Steiner syndrome
Witteveen-Kolk syndrome