(Source: Hypertelorism-hypospadias-polysyndactyly syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
The signs and symptoms of Naguib-Richieri-Costa Syndrome may include the following:
Very frequently present symptoms in 80-99% of the cases:
Frequently present symptoms in 30-79% of the cases:
Occasionally present symptoms in 5-29% of the cases:
Some other signs and symptoms of Naguib-Richieri-Costa Syndrome include:
(Source: Naguib-Richieri-Costa Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
Naguib-Richieri-Costa Syndrome is diagnosed on the basis of the following information:
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
The complications of Naguib-Richieri-Costa Syndrome may include:
Complications may occur with or without treatment, and in some cases, due to treatment also.
There is no cure for Naguib-Richieri-Costa Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.
Currently, Naguib-Richieri-Costa Syndrome may not be preventable, since it is a genetic disorder.
Regular medical screening at periodic intervals with tests and physical examinations are recommended.
Naguib-Richieri-Costa Syndrome is also known by the following names:
The following DoveMed website link is a useful resource for additional information:
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