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