Short stature-valvular heart disease-characteristic facies syndrome
All Entries 2
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Multiple osteochondromas
- Hypochondroplasia
- OBSOLETE: Peripheral dysostosis
- Paralytic facial malformation
- Brachydactyly-long thumb syndrome
- Femur-fibula-ulna complex
- Omodysplasia
- Acromelic dysplasia
- Achondroplasia
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Metachondromatosis
- Heart-hand syndrome
- Dysosteosclerosis
- Rhizomelic chondrodysplasia punctata type 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Laron syndrome
- FGFR3-related chondrodysplasia
- Achondroplasia
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Diastrophic dysplasia
- Silver-Russell syndrome
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
Parent facilities 0
Genetic Advices 0
Care facilities 1
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Multiple osteochondromas
- Hypochondroplasia
- OBSOLETE: Peripheral dysostosis
- Paralytic facial malformation
- Brachydactyly-long thumb syndrome
- Femur-fibula-ulna complex
- Omodysplasia
- Acromelic dysplasia
- Achondroplasia
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Metachondromatosis
- Heart-hand syndrome
- Dysosteosclerosis
- Rhizomelic chondrodysplasia punctata type 1
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Hypochondroplasia
- Laron syndrome
- FGFR3-related chondrodysplasia
- Achondroplasia
- Thanatophoric dysplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Diastrophic dysplasia
- Silver-Russell syndrome
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency