Syndrome de petite taille-âge osseux avancé-arthrose précoce
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
- Cystic fibrosis
- Phenylketonuria
- Very long chain acyl-CoA dehydrogenase deficiency
- Disorder of carnitine cycle and carnitine transport
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Medium chain acyl-CoA dehydrogenase deficiency
- Primary bone dysplasia
- Fabry disease
- Juvenile idiopathic arthritis
- Glycogen storage disease
- Maple syrup urine disease
- Rare renal disease
- Pediatric systemic lupus erythematosus
- Mitochondrial trifunctional protein deficiency
Altonaer Kinderkrankenhaus
Bleickenallee 38
22763 Hamburg
040 889080
040 88908366
Website
Email
- Rare bone disease
- Large congenital melanocytic nevus
- Digestive tract malformation
- 22q11.2 deletion syndrome
- Neural tube defect
- Osteogenesis imperfecta
- Diaphragmatic or abdominal wall malformation
- Autosomal dominant polycystic kidney disease
- 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
Website
Email
- Achondroplasia
- Kabuki syndrome
- KBG syndrome
- Hennekam 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
- 22q11.2 deletion syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- Aicardi-Goutières syndrome