Short stature-webbed neck-heart disease syndrome
All Entries 2
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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Achondroplasia
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Kabuki syndrome
- ADNP syndrome
- KBG syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Non-acquired isolated growth hormone deficiency
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Laron syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Seckel syndrome
- Achondroplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- FGFR3-related chondrodysplasia
Parent facilities 0
Genetic Advices 0
Care facilities 1
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
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Achondroplasia
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Kabuki syndrome
- ADNP syndrome
- KBG syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Non-acquired isolated growth hormone deficiency
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Laron syndrome
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Seckel syndrome
- Achondroplasia
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- FGFR3-related chondrodysplasia