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