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