Syndromes & aids
In the case of rare genetic syndromes, affected children often have special needs in the areas of mobility, communication, care or the promotion of cognition. There are suitable aids for many limitations - and depending on the syndrome, certain aids are used particularly frequently.
Below you will find an overview of all syndromes. Click on a syndrome to find out more about typical characteristics and the aids frequently used for it.
16p11.2 duplication syndrome
Alpha-1-antitrypsin deficiency
Aniridia and the PAX6 gene
CACNA1A mutation
congenital glutamine deficiency
CVI / CVM
Dravet syndrome
Dup15q syndrome
Erythropoietic protoporphyria EPP
Fetal alcohol spectrum disorder (FASD)
Fibrodysplasia Ossificans Progressiva (FOP)
Friedreich's ataxia
GRIN1 syndrome
Hackmann-Di Donato syndrome
Hereditary spastic paraplegia type 50
Hypoxic brain damage
Lissencephaly
Lysosomal storage diseases
MECP2 duplication syndrome
MEF2C haploinsufficiency syndrome
Metachromatic leukodystrophy (MLD)
Multisystemic smooth muscle dysfunction syndrome (MSMDS)
Myelomeningocele (MMC)
Neurofibromatosis
Smith-Magenis syndrome
STXBP1
