Skeletal dysplasia-epilepsy-short stature syndrome
All Entries 3
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Fibrous dysplasia of bone
- Heart-hand syndrome
- Osteogenesis imperfecta
- Metachondromatosis
- Omodysplasia
- Achondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Acromelic dysplasia
- Brachydactyly-long thumb syndrome
- Paralytic facial malformation
- OBSOLETE: Peripheral dysostosis
- Hypochondroplasia
- Rhizomelic chondrodysplasia punctata type 1
- Dysosteosclerosis
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- KBG syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Non-acquired isolated growth hormone deficiency
- Achondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
- FGFR3-related chondrodysplasia
- Pseudoachondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia congenita
Parent facilities 0
Genetic Advices 0
Care facilities 2
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Fibrous dysplasia of bone
- Heart-hand syndrome
- Osteogenesis imperfecta
- Metachondromatosis
- Omodysplasia
- Achondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Acromelic dysplasia
- Brachydactyly-long thumb syndrome
- Paralytic facial malformation
- OBSOLETE: Peripheral dysostosis
- Hypochondroplasia
- Rhizomelic chondrodysplasia punctata type 1
- Dysosteosclerosis
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- KBG syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Non-acquired isolated growth hormone deficiency
- Achondroplasia
- Silver-Russell syndrome
- Seckel syndrome
- Laron syndrome
- FGFR3-related chondrodysplasia
- Pseudoachondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia congenita