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