Short stature-advanced bone age-early-onset osteoarthritis syndrome
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Care facilities 4
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Pediatric systemic lupus erythematosus
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Mitochondrial trifunctional protein deficiency
- Disorder of carnitine cycle and carnitine transport
- Maple syrup urine disease
- Cystic fibrosis
- Juvenile idiopathic arthritis
- Fabry disease
- Rare renal disease
- Primary bone dysplasia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg
Freiburg Zentrum für Seltene Erkrankungen (FZSE) Universitätsklinikum Freiburg
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
- Autosomal recessive polycystic kidney disease
- Digestive tract malformation
- 22q11.2 deletion syndrome
- Large congenital melanocytic nevus
- Rare bone disease
- Autosomal dominant polycystic kidney disease
- Neurocutaneous melanocytosis
- Neural tube defect
- Diaphragmatic or abdominal wall malformation
- Osteogenesis imperfecta
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
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Email
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- KBG syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 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