Sanjad-Sakati syndrome
All Entries 3
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Omodysplasia
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Rhizomelic chondrodysplasia punctata type 1
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Hypochondroplasia
- Dysosteosclerosis
- Achondroplasia
- Fibrous dysplasia of bone
- Osteogenesis imperfecta
- Acromelic dysplasia
- Metachondromatosis
- Paralytic facial malformation
- 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
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- KBG syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia congenita
- Diastrophic dysplasia
- Silver-Russell syndrome
- Seckel syndrome
- FGFR3-related chondrodysplasia
- Achondroplasia
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- 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
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Omodysplasia
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Rhizomelic chondrodysplasia punctata type 1
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Hypochondroplasia
- Dysosteosclerosis
- Achondroplasia
- Fibrous dysplasia of bone
- Osteogenesis imperfecta
- Acromelic dysplasia
- Metachondromatosis
- Paralytic facial malformation
- 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
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- KBG syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia congenita
- Diastrophic dysplasia
- Silver-Russell syndrome
- Seckel syndrome
- FGFR3-related chondrodysplasia
- Achondroplasia
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Laron syndrome
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia