Diastrophic dysplasia
All Entries 4
Zentrum für Seltene Skeletterkrankungen der Universitätsmedizin Göttingen
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Heinrich-Düker-Weg 12
37073 Göttingen
0551 3960606
0551 3967567
Page Web
Email
0551 6337460
0551 63374646
Page Web
Email
- Hypophosphatemic rickets
- Primary bone dysplasia with decreased bone density
- Hypocalcemic rickets
- Osteogenesis imperfecta
- Osteopetrosis and related disorders
- Primary bone dysplasia
- Primary bone dysplasia with defective bone mineralization
- LRP5-related primary osteoporosis
- Idiopathic juvenile osteoporosis
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
- Heart-hand syndrome
- Achondroplasia
- Rhizomelic chondrodysplasia punctata type 1
- Omodysplasia
- Osteogenesis imperfecta
- Metachondromatosis
- Paralytic facial malformation
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Acromelic dysplasia
- Dysosteosclerosis
- Brachydactyly-long thumb syndrome
- Hypochondroplasia
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
Page Web
Email
- KBG syndrome
- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Achondroplasia
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Silver-Russell syndrome
- Achondroplasia
- FGFR3-related chondrodysplasia
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 3
Zentrum für Seltene Skeletterkrankungen der Universitätsmedizin Göttingen
---
Heinrich-Düker-Weg 12
37073 Göttingen
0551 3960606
0551 3967567
Page Web
Email
0551 6337460
0551 63374646
Page Web
Email
- Hypophosphatemic rickets
- Primary bone dysplasia with decreased bone density
- Hypocalcemic rickets
- Osteogenesis imperfecta
- Osteopetrosis and related disorders
- Primary bone dysplasia
- Primary bone dysplasia with defective bone mineralization
- LRP5-related primary osteoporosis
- Idiopathic juvenile osteoporosis
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
- Heart-hand syndrome
- Achondroplasia
- Rhizomelic chondrodysplasia punctata type 1
- Omodysplasia
- Osteogenesis imperfecta
- Metachondromatosis
- Paralytic facial malformation
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Acromelic dysplasia
- Dysosteosclerosis
- Brachydactyly-long thumb syndrome
- Hypochondroplasia
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
Page Web
Email
- KBG syndrome
- ADNP syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Achondroplasia
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
Associations de patients 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Silver-Russell syndrome
- Achondroplasia
- FGFR3-related chondrodysplasia
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency