Patient case (clinical description): A 15-week-old infant brought to the clinic for the follow up. The infant has flat facies, small ears, a single palmar crease, and upward slanting eyes. He was born on 39th week to a 39-year-old woman who didn't have prenatal care. The medical record confirms the trisomy of chromosome 21 (Down syndrome). The infant is otherwise healthy.

Patient's own account: My newborn, who is only 15 weeks old, had one of his follow-up appointments. The doctor pointed out that my baby had a flat face, small ears, only one palm line, and small eyes. He was born on his 39th week, while I was 39. What a coincidence! To be honest, I did not go to the doctor during my pregnancy. The doctor diagnosed my baby with Down syndrome. Apart from that he's healthy.

Clinical trial: DS-Connect {TM}: The Down Syndrome Registry

Eligibility criteria:
-  INCLUSION CRITERIA:

          -  Adults (at least 18 years of age) with a diagnosis of DS (including mosaic DS or
             partial trisomy 21) who are capable of providing consent to participate, or for whom a
             legally authorized representative (LAR) may give permission on behalf of the
             individual to participate. Adults with DS who cannot consent for themselves but can
             provide assent would need to provide assent to their LAR.

          -  Children (up to age 18 years of age) with a diagnosis of DS. Parents/guardians may
             enter registry information and give permission to participate on behalf of their
             child; if the child is over 7 years of age and able to provide assent, they must do
             so. (Note: Once a child has reached age 18, he or she will be prompted to re-enroll
             into the registry as an adult, if he/she is able to provide informed consent or with
             the consent of his/her LAR if unable to re-enroll themselves.)

          -  Children with DS (between the ages of 7 and 18 years) will be asked to provide their
             assent to register.

        No individuals with DS will be excluded from taking part in DS-Connect based on age, race,
        ethnicity, or gender.

        EXCLUSION CRITERIA:

          -  A person who does not have a diagnosis of DS (or mosaic DS or partial trisomy 21)

          -  Adults with DS who are not capable of providing informed consent or assent to
             participate and do not have a Legally Authorized Representative who can do so. In the
             case where an adults with DS is able to provide assent but does not do so, that adult
             will be excluded.

          -  A participant, parent, and/or LAR who cannot provide consent or does not read or
             understand a language that is available for the registry, either English or Spanish.

          -  A child with DS (between the ages of 7 and 18 years) who is capable of providing
             assent but does not do so.

          -  A child under the age of 18 years whose parents share joint custody and one parent
             indicates that they do not consent to the child s participation.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 1 Year old.


Eligibility (NLI label): Entailment