Short stature-advanced bone age-early-onset osteoarthritis syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 4
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Fabry disease
- Rare renal disease
- Medium chain acyl-CoA dehydrogenase deficiency
- Phenylketonuria
- Pediatric systemic lupus erythematosus
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Primary bone dysplasia
- Cystic fibrosis
Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
0761 27043572
0761 2709644710
Website
Email
0761 27043572
0761 2709644710
Website
Email
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
- Rare bone disease
- Autosomal recessive polycystic kidney disease
- 22q11.2 deletion syndrome
- Digestive tract malformation
- Neural tube defect
- Diaphragmatic or abdominal wall malformation
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
- Kabuki syndrome
- ADNP syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- Hennekam syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome