Triple X syndrome

Triple X syndrome   What is Triple X? Triple X syndrome, also called trisomy X or 47, XXX, is a genetic condition that affects girls only. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has...

Fragile X

Fragile x   What is Fragile X?Fragile X syndrome (FSX) is the most frequent inherited form of intellectual disability. The disorder is caused by an expansion of a trinucleotide segment (CGG) in the Fragile X Mental Retardation-1 gene (FMR1) located in the X...

Spinal muscular atrophy

Spinal muscular atrophy   What is Spinal Muscular Atrophy? Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle). Most of the nerve cells that control...

Phenylketonuria

Phenylketonuria   What is Phenylketonuria?Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the...

MDP syndrome

MDP syndrome   What is MDP syndrome?Mandibular hypoplasia-deafness-progeroid syndrome is a very rare, genetic, premature aging disease.  Signs and symptomsMDP is characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with...

MLD syndrome

MLD syndrome   What is MLD syndrome?MLD is an acronym for Metachromatic Leukodystrophy. MLD is an autosomal recessive genetic disorder which at the moment has no cure. MLD is directly caused by a deficiency of the enzyme Arylsulfatase-A. Without this enzyme...