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
- Glycogen storage disease
- Cystic fibrosis
- Phenylketonuria
- Rare renal disease
- Tuberous sclerosis complex
- Pediatric systemic lupus erythematosus
- Maple syrup urine disease
- Mitochondrial trifunctional protein deficiency
- Juvenile idiopathic arthritis
- Disorder of carnitine cycle and carnitine transport
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Very long chain acyl-CoA dehydrogenase deficiency
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
- Diaphragmatic or abdominal wall malformation
- Rare bone disease
- Autosomal recessive polycystic kidney disease
- Large congenital melanocytic nevus
- Digestive tract malformation
- Osteogenesis imperfecta
- 22q11.2 deletion syndrome
- Neural tube defect
- Neurocutaneous melanocytosis
- Autosomal dominant polycystic kidney disease
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
- Aicardi-Goutières syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- 22q11.2 deletion syndrome
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Achondroplasia
- Hennekam syndrome
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome