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
- Rhizomelic chondrodysplasia punctata type 1
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Omodysplasia
- Metachondromatosis
- Paralytic facial malformation
- Osteogenesis imperfecta
- Achondroplasia
- Dysosteosclerosis
- Acromelic dysplasia
- Heart-hand syndrome
- Fibrous dysplasia of bone
- Hypochondroplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- Kabuki syndrome
- KBG syndrome
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Achondroplasia
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Achondroplasia
- FGFR3-related chondrodysplasia
- Isolated growth hormone deficiency type III
- Diastrophic dysplasia
- Hypochondroplasia
- Thanatophoric 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
- Rhizomelic chondrodysplasia punctata type 1
- Brachydactyly-long thumb syndrome
- OBSOLETE: Peripheral dysostosis
- Omodysplasia
- Metachondromatosis
- Paralytic facial malformation
- Osteogenesis imperfecta
- Achondroplasia
- Dysosteosclerosis
- Acromelic dysplasia
- Heart-hand syndrome
- Fibrous dysplasia of bone
- Hypochondroplasia
- Multiple osteochondromas
- Femur-fibula-ulna complex
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Infantile spasms syndrome
- Aicardi-Goutières syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- Kabuki syndrome
- KBG syndrome
- 22q11.2 deletion syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- Achondroplasia
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Seckel syndrome
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Achondroplasia
- FGFR3-related chondrodysplasia
- Isolated growth hormone deficiency type III
- Diastrophic dysplasia
- Hypochondroplasia
- Thanatophoric dysplasia