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