Clinical and Molecular Manifestations of Human Skeletal Dysplasias and Short Stature

Date de début de l'étude : 1 juin 1998

Patients with known or suspected skeletal dysplasias or short stature and their family members of any age will be recruited worldwide from diverse medical communities including genetics, orthopedics, ophthalmology, and pediatrics. DISEASE CATEGORY I: Individuals and family members with a suspected or an established diagnosis of any FGFR3 disorder, type II collagen disorder, Schmid metaphyseal dysplasia, pyknodysostosis, proximal symphalangism, or brachydactyly type C. DISEASE CATEGORY II: Individuals and family members with a suspected or an established diagnosis of a skeletal dysplasia in which the disease gene is not yet known, including: Ellis van Crevald, brachydactyly types B and E, and cartilage-hair hypoplasia. DISEASE CATEGORY III: Individuals and family members who have previously uncharacterized systemic manifestations suggestive of a skeletal dysplasias, with clinical findings of: disproportionate or proportionate short stature; and/or cleft palate; and/or detached retina; and/or history of loose joints or frequent joint dislocation; and/or history of, or family history of, premature arthritis. Short Stature Category I: Individuals with generalized short stature and their family members. This includes adults with abnormal stature as statistically defined from standardized growth charts. Must be able to give informed consent, older children (greater than or equal to 7 years old) who do not give assent, or persons who are wards of the state will be excluded from the study.