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