Short stature-advanced bone age-early-onset osteoarthritis syndrome
Institutions de rang supérieur 0
Conseil génétique 0
Institutions de prise en charge 4
Klinik für Allgemeine Kinder- und Jugendmedizin am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg
Mathildenstraße 1
79106 Freiburg
0761 27043000
0761 27044490
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- Phenylketonuria
- Mitochondrial trifunctional protein deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Glycogen storage disease
- Maple syrup urine disease
- Pediatric systemic lupus erythematosus
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Tuberous sclerosis complex
- Rare renal disease
- Juvenile idiopathic arthritis
- Cystic fibrosis
- Disorder of carnitine cycle and carnitine transport
Zentrum für Skelettentwicklungsstörungen am Universitätsklinikum Freiburg
Universitätsklinikum Freiburg Freiburg Zentrum für Seltene Erkrankungen (FZSE)
Breisacherstr. 62
79106 Freiburg
0761 27043572
0761 2709644710
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0761 27043572
0761 2709644710
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Email
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
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- Neural tube defect
- Neurocutaneous melanocytosis
- 22q11.2 deletion syndrome
- Autosomal dominant polycystic kidney disease
- Diaphragmatic or abdominal wall malformation
- Rare bone disease
- Large congenital melanocytic nevus
- Osteogenesis imperfecta
- Autosomal recessive polycystic kidney disease
- Digestive tract malformation
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
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- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Rubinstein-Taybi syndrome
- KBG syndrome
- ADNP syndrome
- Kabuki syndrome
- Aicardi-Goutières syndrome
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Achondroplasia
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder