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