Mandibulofacial dysostosis-microcephaly syndrome
All Entries 3
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Metachondromatosis
- Fibrous dysplasia of bone
- Rhizomelic chondrodysplasia punctata type 1
- Heart-hand syndrome
- Osteogenesis imperfecta
- Achondroplasia
- Omodysplasia
- Acromelic dysplasia
- Paralytic facial malformation
- Hypochondroplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Dysosteosclerosis
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- ADNP syndrome
- KBG syndrome
- Achondroplasia
- 22q11.2 deletion 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
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Kabuki syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia congenita
- Seckel syndrome
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Laron syndrome
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Parent facilities 0
Genetic Advices 0
Care facilities 2
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Uniklinik Köln Centrum für Seltene Erkrankungen Köln (CESEK)
Kerpener Straße 62
50937 Köln
- Metachondromatosis
- Fibrous dysplasia of bone
- Rhizomelic chondrodysplasia punctata type 1
- Heart-hand syndrome
- Osteogenesis imperfecta
- Achondroplasia
- Omodysplasia
- Acromelic dysplasia
- Paralytic facial malformation
- Hypochondroplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Dysosteosclerosis
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Klinikum rechts der Isar der Technischen Universität München Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- ADNP syndrome
- KBG syndrome
- Achondroplasia
- 22q11.2 deletion 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
- Aicardi-Goutières syndrome
- Hennekam syndrome
- Kabuki syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Non-acquired isolated growth hormone deficiency
- Spondyloepiphyseal dysplasia congenita
- Seckel syndrome
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- Laron syndrome
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia