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