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
- Fibrous dysplasia of bone
- Heart-hand syndrome
- Metachondromatosis
- Achondroplasia
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Paralytic facial malformation
- Hypochondroplasia
- Dysosteosclerosis
- Omodysplasia
- Acromelic dysplasia
- Rhizomelic chondrodysplasia punctata type 1
- Osteogenesis imperfecta
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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Achondroplasia
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Pseudoachondroplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Diastrophic dysplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- 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
- Fibrous dysplasia of bone
- Heart-hand syndrome
- Metachondromatosis
- Achondroplasia
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Femur-fibula-ulna complex
- Multiple osteochondromas
- Paralytic facial malformation
- Hypochondroplasia
- Dysosteosclerosis
- Omodysplasia
- Acromelic dysplasia
- Rhizomelic chondrodysplasia punctata type 1
- Osteogenesis imperfecta
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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Achondroplasia
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Pseudoachondroplasia
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Diastrophic dysplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Seckel syndrome
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- FGFR3-related chondrodysplasia
- Achondroplasia