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