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