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