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