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Short stature-wormian bones-dextrocardia syndrome

Further information on this disease (ORPHANET)

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All Entries 2

6.917061443465901 50.92344825 Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln

Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln

Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln

Kerpener Straße 62
50937 Köln

0221 47884747
Website
Email

Rhizomelic chondrodysplasia punctata type 1
OBSOLETE: Peripheral dysostosis
Brachydactyly-long thumb syndrome
Omodysplasia
Paralytic facial malformation
Metachondromatosis
Osteogenesis imperfecta
Achondroplasia
Acromelic dysplasia
Dysosteosclerosis
Femur-fibula-ulna complex
Hypochondroplasia
Fibrous dysplasia of bone
Multiple osteochondromas
Heart-hand syndrome

8.80209267139435 53.06993448370298 Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.

Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.

Leinestraße 2

28199 Bremen

0421 3361690
Website
Email

Non-acquired isolated growth hormone deficiency
Thanatophoric dysplasia
Diastrophic dysplasia
Seckel syndrome
Achondroplasia
FGFR3-related chondrodysplasia
Silver-Russell syndrome
Laron syndrome
Isolated growth hormone deficiency type III
Hypochondroplasia
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Pseudoachondroplasia
Spondyloepiphyseal dysplasia congenita

Parent facilities 0

Genetic Advices 0

Care facilities 1

6.917061443465901 50.92344825 Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln

Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln

Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln

Kerpener Straße 62
50937 Köln

0221 47884747
Website
Email

Rhizomelic chondrodysplasia punctata type 1
OBSOLETE: Peripheral dysostosis
Brachydactyly-long thumb syndrome
Omodysplasia
Paralytic facial malformation
Metachondromatosis
Osteogenesis imperfecta
Achondroplasia
Acromelic dysplasia
Dysosteosclerosis
Femur-fibula-ulna complex
Hypochondroplasia
Fibrous dysplasia of bone
Multiple osteochondromas
Heart-hand syndrome

Supportgroups 1

8.80209267139435 53.06993448370298 Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.

Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.

Leinestraße 2

28199 Bremen

0421 3361690
Website
Email

Non-acquired isolated growth hormone deficiency
Thanatophoric dysplasia
Diastrophic dysplasia
Seckel syndrome
Achondroplasia
FGFR3-related chondrodysplasia
Silver-Russell syndrome
Laron syndrome
Isolated growth hormone deficiency type III
Hypochondroplasia
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Pseudoachondroplasia
Spondyloepiphyseal dysplasia congenita

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