Short stature-advanced bone age-early-onset osteoarthritis syndrome
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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
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
Website
- Medium chain acyl-CoA dehydrogenase deficiency
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Mitochondrial trifunctional protein deficiency
- Maple syrup urine disease
- Phenylketonuria
- Rare renal disease
- Fabry disease
- Glycogen storage disease
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
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Email
- Autosomal recessive polycystic kidney disease
- Digestive tract malformation
- 22q11.2 deletion syndrome
- Neural tube defect
- Diaphragmatic or abdominal wall malformation
- Osteogenesis imperfecta
- Autosomal dominant polycystic kidney disease
- Neurocutaneous melanocytosis
- Large congenital melanocytic nevus
- Rare bone disease
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
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- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- Achondroplasia
- KBG syndrome
- Hennekam syndrome
- ADNP syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation