Short stature-advanced bone age-early-onset osteoarthritis syndrome
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Care facilities 4
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
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
- Rare renal disease
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Cystic fibrosis
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Disorder of carnitine cycle and carnitine transport
- Juvenile idiopathic arthritis
- Fabry disease
- Glycogen storage disease
- Pediatric systemic lupus erythematosus
- Phenylketonuria
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
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Email
- Autosomal dominant polycystic kidney disease
- Neurocutaneous melanocytosis
- Large congenital melanocytic nevus
- Rare bone disease
- 22q11.2 deletion syndrome
- Autosomal recessive polycystic kidney disease
- Neural tube defect
- Digestive tract malformation
- 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
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Kabuki syndrome
- KBG syndrome
- ADNP syndrome
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Aicardi-Goutières syndrome
- Achondroplasia
- Hennekam syndrome