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