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