Short stature-advanced bone age-early-onset osteoarthritis syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 4
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Glycogen storage disease
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Maple syrup urine disease
- Primary bone dysplasia
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Cystic fibrosis
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Tuberous sclerosis complex
- Mitochondrial trifunctional protein deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Rare renal disease
- Phenylketonuria
Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
Breisacherstr. 62
79106 Freiburg
0761 27043572
0761 2709644710
Website
Email
0761 27043572
0761 2709644710
Website
Email
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
Website
Email
- Autosomal dominant polycystic kidney disease
- Osteogenesis imperfecta
- Diaphragmatic or abdominal wall malformation
- Large congenital melanocytic nevus
- Digestive tract malformation
- Autosomal recessive polycystic kidney disease
- Neural tube defect
- Rare bone disease
- 22q11.2 deletion syndrome
- Neurocutaneous melanocytosis
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
TUM Klinikum Rechts der Isar Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- KBG syndrome
- Rubinstein-Taybi syndrome
- Kabuki syndrome
- Achondroplasia
- Hennekam syndrome
- ADNP syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome