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
- Acromelic dysplasia
- Heart-hand syndrome
- Hypochondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Achondroplasia
- Osteogenesis imperfecta
- Dysosteosclerosis
- Fibrous dysplasia of bone
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- KBG syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Hennekam syndrome
- Aicardi-Goutières syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- Kabuki syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
- Diastrophic dysplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- FGFR3-related chondrodysplasia
- Achondroplasia
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
- Acromelic dysplasia
- Heart-hand syndrome
- Hypochondroplasia
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Achondroplasia
- Osteogenesis imperfecta
- Dysosteosclerosis
- Fibrous dysplasia of bone
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- KBG syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Hennekam syndrome
- Aicardi-Goutières syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- ADNP syndrome
- Kabuki syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
- Diastrophic dysplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- FGFR3-related chondrodysplasia
- Achondroplasia