Parents

TELO2-related syndrome is an extremely rare genetic condition with a predominant neurological involvement.
To date, less then 20 patients have been reported, making it difficult to precisely delineate a distinctive phenotype.
The condition is characterized by Developmental Delay/Intellectual Disability, balance and gait disorder up to ataxia, limbs stiffness (spasticity), microcephaly; some children may also present particular facial traits.
As far as we know, patients not experience a worsening or a clear decline of their medical conditions, but they show an overall stability, albeit in a generally severe clinical scenario.
TELO2-related syndrome is an autosomal recessive disorder. This means that it is necessary to have an alteration (mutation) in both the two copies of the gene; so far, all the patients carried two mutations inherited each from one of the healthy parent, that is an unaware carrier of the disease. Hypothetically, it is not impossible that a new mutation occur “de novo” ion the fetus. As in every recessive disorder, consanguinity increases the risk of having an affected child.