Mandibulofacial dysostosis-microcephaly syndrome
All Entries 3
Zentrum für Seltene Skeletterkrankungen im Kindes- und Jugendalter am Universitätsklinikum Köln
Centrum für Seltene Erkrankungen Köln (CESEK) Uniklinik Köln
Kerpener Straße 62
50937 Köln
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Achondroplasia
- Dysosteosclerosis
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
- Multiple osteochondromas
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Omodysplasia
- Acromelic dysplasia
- Hypochondroplasia
- Femur-fibula-ulna complex
- Heart-hand syndrome
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
- Infantile spasms syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia congenita
- Seckel syndrome
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- FGFR3-related chondrodysplasia
Parent facilities 0
Genetic Advices 0
Care facilities 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
- Osteogenesis imperfecta
- Fibrous dysplasia of bone
- Achondroplasia
- Dysosteosclerosis
- Metachondromatosis
- Paralytic facial malformation
- Rhizomelic chondrodysplasia punctata type 1
- Multiple osteochondromas
- OBSOLETE: Peripheral dysostosis
- Brachydactyly-long thumb syndrome
- Omodysplasia
- Acromelic dysplasia
- Hypochondroplasia
- Femur-fibula-ulna complex
- Heart-hand syndrome
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
- Infantile spasms syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Aicardi-Goutières syndrome
- Achondroplasia
- 22q11.2 deletion syndrome
- Hennekam syndrome
- Rubinstein-Taybi syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- ADNP syndrome
- KBG syndrome
- Kabuki syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Silver-Russell syndrome
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Spondyloepiphyseal dysplasia congenita
- Seckel syndrome
- Pseudoachondroplasia
- Non-acquired isolated growth hormone deficiency
- Achondroplasia
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Laron syndrome
- Hypochondroplasia
- Isolated growth hormone deficiency type III
- FGFR3-related chondrodysplasia