Sanjad-Sakati 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
- Metachondromatosis
- Omodysplasia
- Osteogenesis imperfecta
- Rhizomelic chondrodysplasia punctata type 1
- Dysosteosclerosis
- Paralytic facial malformation
- Hypochondroplasia
- Acromelic dysplasia
- Brachydactyly-long thumb syndrome
- Multiple osteochondromas
- Achondroplasia
- OBSOLETE: Peripheral dysostosis
- Femur-fibula-ulna complex
- Fibrous dysplasia of bone
- Heart-hand syndrome
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Rubinstein-Taybi 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
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- ADNP syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- FGFR3-related chondrodysplasia
- Silver-Russell syndrome
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Thanatophoric dysplasia
- Achondroplasia
- Laron syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
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
- Metachondromatosis
- Omodysplasia
- Osteogenesis imperfecta
- Rhizomelic chondrodysplasia punctata type 1
- Dysosteosclerosis
- Paralytic facial malformation
- Hypochondroplasia
- Acromelic dysplasia
- Brachydactyly-long thumb syndrome
- Multiple osteochondromas
- Achondroplasia
- OBSOLETE: Peripheral dysostosis
- Femur-fibula-ulna complex
- Fibrous dysplasia of bone
- Heart-hand syndrome
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Rubinstein-Taybi 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
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- ADNP syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- FGFR3-related chondrodysplasia
- Silver-Russell syndrome
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Thanatophoric dysplasia
- Achondroplasia
- Laron syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia