Tenorio Syndrome
Patient Information
Characteristics
Background and History
This is a recently reported syndrome based on the clinical and genetic findings among six patients identified in Spain.
Clinical Correlations
Infants are large (greater than the 97th percentile) in weight, length and head circumference at birth. The jaw is also large and the forehead is prominent; the lips appear full and the eyebrows are ‘bushy’. Closure of the skull soft spots is delayed. Infants appear floppy with hyperflexible joints. Some patients develop abnormal curvature of the spine (scoliosis). There may be repeated inflammation inside the mouth and gastric reflux is common. Tear production is low and some patients have repeated bouts of inflammation involving the cornea (windshield) and adjacent structures. The teeth are late to erupt.
Brain imaging reveals multiple malformations. Intellectual and motor functions are often delayed and patients may have frank intellectual disabilities, mood variations, fainting spells, interruptions in their breathing patterns and general clumsiness. Many developmental milestones such as speech may be delayed.
Genetics
Inheritance
This condition is the result of a gene change (mutation) occurring in one member of a pair. It can be transmitted directly from parent to child with a 50% probability.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
The diagnosis may be suspected at birth by a pediatrician but diagnostic verification likely requires a neurologist, ophthalmologist, radiologist, and other specialists. No treatment is known. Individuals can live to adulthood. There is considerable variation of the clinical features among individuals.
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