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