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
- Osteogenesis imperfecta
- Achondroplasia
- Dysosteosclerosis
- Hypochondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Heart-hand syndrome
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Omodysplasia
- Acromelic dysplasia
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
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
- KBG syndrome
- Kabuki syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Achondroplasia
- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Achondroplasia
- Laron syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Seckel syndrome
- FGFR3-related chondrodysplasia
- Spondyloepiphyseal dysplasia congenita
- Silver-Russell syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
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
- Osteogenesis imperfecta
- Achondroplasia
- Dysosteosclerosis
- Hypochondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Heart-hand syndrome
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Omodysplasia
- Acromelic dysplasia
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
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
- KBG syndrome
- Kabuki syndrome
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Achondroplasia
- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Achondroplasia
- Laron syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Seckel syndrome
- FGFR3-related chondrodysplasia
- Spondyloepiphyseal dysplasia congenita
- Silver-Russell syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia