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