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