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