Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.
Abnormally small jaw.
Appliances that close a cleft or fissure of the palate.
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
The anatomical frontal portion of the mandible, also known as the mentum, that contains the line of fusion of the two separate halves of the mandible (symphysis menti). This line of fusion divides inferiorly to enclose a triangular area called the mental protuberance. On each side, inferior to the second premolar tooth, is the mental foramen for the passage of blood vessels and a nerve.
Any hindrance to the passage of air into and out of the lungs.
Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Congenital fissure of the soft and/or hard palate, due to faulty fusion.
A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.
An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.
A characteristic symptom complex.
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.
A disease characterized by bony deposits or the ossification of muscle tissue.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A type of acneiform disorder in which secondary pyogenic infection in and around pilosebaceous structures ends in keloidal scarring. It manifests as persistent folliculitis of the back of the neck associated with occlusion of the follicular orifices. It is most often encountered in black or Asian men.
Process of restoring damaged or decayed teeth using various restorative and non-cosmetic materials so that oral health is improved.
The possession of a third chromosome of any one type in an otherwise diploid cell.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
A republic in eastern Africa, on the Gulf of Aden at the entrance to the Red Sea. Djibouti is also the name of its capital.
A surgical specialty which utilizes medical, surgical, and physical methods to treat and correct deformities, diseases, and injuries to the skeletal system, its articulations, and associated structures.
Any group of three or more full-time physicians organized in a legally recognized entity for the provision of health care services, sharing space, equipment, personnel and records for both patient care and business management, and who have a predetermined arrangement for the distribution of income.
Any system which allows payors to share some of the financial risk associated with a particular patient population with providers. Providers agree to adhere to fixed fee schedules in exchange for an increase in their payor base and a chance to benefit from cost containment measures. Common risk-sharing methods are prospective payment schedules (PROSPECTIVE PAYMENT SYSTEM), capitation (CAPITATION FEES), diagnosis-related fees (DIAGNOSIS-RELATED GROUPS), and pre-negotiated fees.
The simultaneous use of multiple laboratory procedures for the detection of various diseases. These are usually performed on groups of people.
Diversion of blood flow through a circuit located outside the body but continuous with the bodily circulation.
An organized group of three or more full-time physicians rendering services for a fixed prepayment.
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)
Sequential operating programs and data which instruct the functioning of a digital computer.
Tumors or cancer of the SKIN.
Lining of the ORAL CAVITY, including mucosa on the GUMS; the PALATE; the LIP; the CHEEK; floor of the mouth; and other structures. The mucosa is generally a nonkeratinized stratified squamous EPITHELIUM covering muscle, bone, or glands but can show varying degree of keratinization at specific locations.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
The legal authority or formal permission from authorities to carry on certain activities which by law or regulation require such permission. It may be applied to licensure of institutions as well as individuals.
Duties that are based in ETHICS, rather than in law.