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