Short stature-advanced bone age-early-onset osteoarthritis syndrome
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 3
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
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- Disorder of carnitine cycle and carnitine transport
- Mitochondrial trifunctional protein deficiency
- Phenylketonuria
- Maladie des urines sirop d'érable
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Pediatric systemic lupus erythematosus
- Cystic fibrosis
- Juvenile idiopathic arthritis
- Rare renal disease
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Maladie de Fabry
- Medium chain acyl-CoA dehydrogenase deficiency
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
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- Autosomal dominant polycystic kidney disease
- 22q11.2 deletion syndrome
- Neurocutaneous melanocytosis
- Neural tube defect
- Diaphragmatic or abdominal wall malformation
- Osteogenesis imperfecta
- Digestive tract malformation
- 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
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- KBG syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Kabuki syndrome
- ADNP syndrome
- Rubinstein-Taybi syndrome
- Infantile spasms syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Hennekam syndrome
- 22q11.2 deletion syndrome
- Aicardi-Goutières syndrome
- Achondroplasia