Diastrophic dysplasia
All Entries 5
Zentrum für Seltene Skeletterkrankungen der Universitätsmedizin Göttingen
Centre for Rare Diseases Göttingen
Heinrich-Düker-Weg 12
37073 Göttingen
0551 3960606
0551 3967567
Website
Email
0551 6337460
0551 63374646
Website
Email
- Idiopathic juvenile osteoporosis
- LRP5-related primary osteoporosis
- Primary bone dysplasia with defective bone mineralization
- Primary bone dysplasia with decreased bone density
- Osteogenesis imperfecta
- Osteopetrosis and related disorders
- Hypocalcemic rickets
- Hypophosphatemic rickets
- Primary bone dysplasia
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Omodysplasia
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Heart-hand syndrome
- Femur-fibula-ulna complex
- Acromelic dysplasia
- Multiple osteochondromas
- Achondroplasia
- Dysosteosclerosis
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Hypochondroplasia
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für Wachstumsstörungen und angeborene Skelettsystemerkrankungen am Universitätsklinikum Magdeburg
Medizinische Fakultät Universitätsklinikum Magdeburg A.ö.R. Mitteldeutsches Kompetenznetz Seltene Erkrankungen - Magdeburg, Dessau, Halle (MKSE)
Leipziger Str. 44
39120 Magdeburg
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- ADNP syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- Achondroplasia
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Achondroplasia
- Isolated growth hormone deficiency type III
- Laron syndrome
- FGFR3-related chondrodysplasia
- Hypochondroplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Parent facilities 0
Genetic Advices 0
Care facilities 4
Zentrum für Seltene Skeletterkrankungen der Universitätsmedizin Göttingen
Centre for Rare Diseases Göttingen
Heinrich-Düker-Weg 12
37073 Göttingen
0551 3960606
0551 3967567
Website
Email
0551 6337460
0551 63374646
Website
Email
- Idiopathic juvenile osteoporosis
- LRP5-related primary osteoporosis
- Primary bone dysplasia with defective bone mineralization
- Primary bone dysplasia with decreased bone density
- Osteogenesis imperfecta
- Osteopetrosis and related disorders
- Hypocalcemic rickets
- Hypophosphatemic rickets
- Primary bone dysplasia
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Omodysplasia
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Heart-hand syndrome
- Femur-fibula-ulna complex
- Acromelic dysplasia
- Multiple osteochondromas
- Achondroplasia
- Dysosteosclerosis
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Hypochondroplasia
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für Wachstumsstörungen und angeborene Skelettsystemerkrankungen am Universitätsklinikum Magdeburg
Medizinische Fakultät Universitätsklinikum Magdeburg A.ö.R. Mitteldeutsches Kompetenznetz Seltene Erkrankungen - Magdeburg, Dessau, Halle (MKSE)
Leipziger Str. 44
39120 Magdeburg
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- 22q11.2 deletion syndrome
- Kabuki syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- ADNP syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- Achondroplasia
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Achondroplasia
- Isolated growth hormone deficiency type III
- Laron syndrome
- FGFR3-related chondrodysplasia
- Hypochondroplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia