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