Cleft palate-short stature-vertebral anomalies syndrome
All Entries 4
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Brachydactyly-long thumb syndrome
- Rhizomelic chondrodysplasia punctata type 1
- OBSOLETE: Peripheral dysostosis
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Fibrous dysplasia of bone
- Hypochondroplasia
- Dysosteosclerosis
- Achondroplasia
- Osteogenesis imperfecta
- Metachondromatosis
- Paralytic facial malformation
- Heart-hand syndrome
- Omodysplasia
- Acromelic dysplasia
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
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Achondroplasia
- Hennekam syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Kabuki syndrome
- KBG syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Non-acquired isolated growth hormone deficiency
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- FGFR3-related chondrodysplasia
- Laron syndrome
- Seckel syndrome
Selbsthilfevereinigung für Lippen-Gaumen-Fehlbildungen e.V.
Hauser Gasse 16
35578
Wetzlar
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
- Brachydactyly-long thumb syndrome
- Rhizomelic chondrodysplasia punctata type 1
- OBSOLETE: Peripheral dysostosis
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Fibrous dysplasia of bone
- Hypochondroplasia
- Dysosteosclerosis
- Achondroplasia
- Osteogenesis imperfecta
- Metachondromatosis
- Paralytic facial malformation
- Heart-hand syndrome
- Omodysplasia
- Acromelic dysplasia
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
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Achondroplasia
- Hennekam syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Kabuki syndrome
- KBG syndrome
Supportgroups 2
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Non-acquired isolated growth hormone deficiency
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- FGFR3-related chondrodysplasia
- Laron syndrome
- Seckel syndrome
Selbsthilfevereinigung für Lippen-Gaumen-Fehlbildungen e.V.
Hauser Gasse 16
35578
Wetzlar