Short stature-advanced bone age-early-onset osteoarthritis syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 3
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
- Primary bone dysplasia
- Disorder of carnitine cycle and carnitine transport
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Fabry disease
- Juvenile idiopathic arthritis
- Medium chain acyl-CoA dehydrogenase deficiency
- Rare renal disease
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Phenylketonuria
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
Website
Email
- Autosomal dominant polycystic kidney disease
- 22q11.2 deletion syndrome
- Neurocutaneous melanocytosis
- Diaphragmatic or abdominal wall malformation
- Neural tube defect
- Osteogenesis imperfecta
- Digestive tract malformation
- Rare bone disease
- Autosomal recessive polycystic kidney disease
- Large congenital melanocytic nevus
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
- Kabuki syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Hennekam syndrome
- KBG syndrome
- Aicardi-Goutières syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome