An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Specific molecular sites or structures on cell membranes that react with FIBROBLAST GROWTH FACTORS (both the basic and acidic forms), their analogs, or their antagonists to elicit or to inhibit the specific response of the cell to these factors. These receptors frequently possess tyrosine kinase activity.
Age of the biological father.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
The religion of the Jews characterized by belief in one God and in the mission of the Jews to teach the Fatherhood of God as revealed in the Hebrew Scriptures. (Webster, 3d ed)
Tomography using x-ray transmission.
The cavity within the SPINAL COLUMN through which the SPINAL CORD passes.
The area between the EPIPHYSIS and the DIAPHYSIS within which bone growth occurs.
Abnormal development of cartilage and bone.
Devices for examining the interior of the eye, permitting the clear visualization of the structures of the eye at any depth. (UMDNS, 1999)
Congenital structural abnormalities and deformities of the musculoskeletal system.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)
Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.
The privacy of information and its protection against unauthorized disclosure.
The state of being free from intrusion or disturbance in one's private life or affairs. (Random House Unabridged Dictionary, 2d ed, 1993)
Hyaline cartilages in the nose. There are five major nasal cartilages including two lateral, two alar, and one septal.
Bone in humans and primates extending from the SHOULDER JOINT to the ELBOW JOINT.
A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.
Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.
The head of a long bone that is separated from the shaft by the epiphyseal plate until bone growth stops. At that time, the plate disappears and the head and shaft are united.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Social media model for enabling public involvement and recruitment in participation. Use of social media to collect feedback and recruit volunteer subjects.
The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.
Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports research into the mapping of the human genome and other organism genomes. The National Center for Human Genome Research was established in 1989 and re-named the National Human Genome Research Institute in 1997.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent.
The part of the face above the eyes.
Deformities of the SPINE characterized by an exaggerated convexity of the vertebral column. The forward bending of the thoracic region usually is more than 40 degrees. This deformity sometimes is called round back or hunchback.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.