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