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