Oculo-palato-cerebral syndrome
All Entries 4
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Osteogenesis imperfecta
- Metachondromatosis
- Fibrous dysplasia of bone
- Acromelic dysplasia
- Heart-hand syndrome
- Achondroplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Omodysplasia
- Paralytic facial malformation
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Hypochondroplasia
- Dysosteosclerosis
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- KBG syndrome
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- Hennekam syndrome
- ADNP syndrome
Zentrum für kongenitale Katarakt am Universitätsklinikum Würzburg
Universitätsklinikum Würzburg Zentrum für Seltene Erkrankungen - Referenzzentrum Nordbayern (ZESE)
Josef-Schneider-Straße 11
97080 Würzburg
0931 20120487
0931 20120494
Website
Email
0931 20120487
0931 20120494
Website
Email
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Spondyloepiphyseal dysplasia congenita
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- FGFR3-related chondrodysplasia
- Seckel syndrome
- Laron syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 3
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Osteogenesis imperfecta
- Metachondromatosis
- Fibrous dysplasia of bone
- Acromelic dysplasia
- Heart-hand syndrome
- Achondroplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Omodysplasia
- Paralytic facial malformation
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Hypochondroplasia
- Dysosteosclerosis
- Rhizomelic chondrodysplasia punctata type 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am TUM Klinikum Rechts der Isar TUM Klinikum Rechts der Isar
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- KBG syndrome
- Rubinstein-Taybi syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- 22q11.2 deletion syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Kabuki syndrome
- Achondroplasia
- Hennekam syndrome
- ADNP syndrome
Zentrum für kongenitale Katarakt am Universitätsklinikum Würzburg
Universitätsklinikum Würzburg Zentrum für Seltene Erkrankungen - Referenzzentrum Nordbayern (ZESE)
Josef-Schneider-Straße 11
97080 Würzburg
0931 20120487
0931 20120494
Website
Email
0931 20120487
0931 20120494
Website
Email
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Diastrophic dysplasia
- Thanatophoric dysplasia
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Spondyloepiphyseal dysplasia congenita
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- FGFR3-related chondrodysplasia
- Seckel syndrome
- Laron syndrome