Cleft Palate: Congenital fissure of the soft and/or hard palate, due to faulty fusion.Palate: The structure that forms the roof of the mouth. It consists of the anterior hard palate (PALATE, HARD) and the posterior soft palate (PALATE, SOFT).Cleft Lip: Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.Palate, Hard: The anteriorly located rigid section of the PALATE.Palate, Soft: A movable fold suspended from the posterior border of the hard palate. The uvula hangs from the middle of the lower border.Pierre Robin Syndrome: 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.Velopharyngeal Insufficiency: Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech.Palatal Muscles: The muscles of the palate are the glossopalatine, palatoglossus, levator palati(ni), musculus uvulae, palatopharyngeus, and tensor palati(ni).Abnormalities, MultipleMouth Abnormalities: Congenital absence of or defects in structures of the mouth.Micrognathism: Abnormally small jaw.Lingual Frenum: MUCOUS MEMBRANE extending from floor of mouth to the under-surface of the tongue.Transforming Growth Factor beta3: A TGF-beta subtype that plays role in regulating epithelial-mesenchymal interaction during embryonic development. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta3 and TGF-beta3 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor.Lip: Either of the two fleshy, full-blooded margins of the mouth.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Teratogens: An agent that causes the production of physical defects in the developing embryo.MSX1 Transcription Factor: A homeodomain protein that interacts with TATA-BOX BINDING PROTEIN. It represses GENETIC TRANSCRIPTION of target GENES and plays a critical role in ODONTOGENESIS.Syndrome: A characteristic symptom complex.Maxillofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.Polychloroterphenyl Compounds: Compounds consisting of three benzene rings linked to each other in either ortho, meta or para positions and substituted with chlorine atoms.Mandibulofacial Dysostosis: 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)Palatal Neoplasms: Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA.Congenital Abnormalities: Malformations of organs or body parts during development in utero.Abnormalities, Drug-Induced: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.Uvula: A fleshy extension at the back of the soft palate that hangs above the opening of the throat.Choanal Atresia: A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous.Tongue: A muscular organ in the mouth that is covered with pink tissue called mucosa, tiny bumps called papillae, and thousands of taste buds. The tongue is anchored to the mouth and is vital for chewing, swallowing, and for speech.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Maxillofacial Development: The process of growth and differentiation of the jaws and face.Fetal Resorption: The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS).Tooth Abnormalities: Congenital absence of or defects in structures of the teeth.Infant, Newborn: An infant during the first month after birth.Interferon Regulatory Factors: A family of transcription factors that share an N-terminal HELIX-TURN-HELIX MOTIF and bind INTERFERON-inducible promoters to control GENE expression. IRF proteins bind specific DNA sequences such as interferon-stimulated response elements, interferon regulatory elements, and the interferon consensus sequence.Palatal Obturators: Appliances that close a cleft or fissure of the palate.Maxilla: One of a pair of irregularly shaped bones that form the upper jaw. A maxillary bone provides tooth sockets for the superior teeth, forms part of the ORBIT, and contains the MAXILLARY SINUS.Face: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.Retrognathia: A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead.Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Articulation Disorders: Disorders of the quality of speech characterized by the substitution, omission, distortion, and addition of phonemes.Oral Surgical Procedures: Surgical procedures used to treat disease, injuries, and defects of the oral and maxillofacial region.Anodontia: Congenital absence of the teeth; it may involve all (total anodontia) or only some of the teeth (partial anodontia, hypodontia), and both the deciduous and the permanent dentition, or only teeth of the permanent dentition. (Dorland, 27th ed)DiGeorge Syndrome: Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.Ectodermal Dysplasia: A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Ultrasonography, Prenatal: The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.Syndactyly: A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.Eustachian Tube: A narrow passageway that connects the upper part of the throat to the TYMPANIC CAVITY.Speech Disorders: Acquired or developmental conditions marked by an impaired ability to comprehend or generate spoken forms of language.Alveolar Process: The thickest and spongiest part of the maxilla and mandible hollowed out into deep cavities for the teeth.Skull: The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.Facial Asymmetry: Congenital or acquired asymmetry of the face.Mandible: The largest and strongest bone of the FACE constituting the lower jaw. It supports the lower teeth.Jaw Abnormalities: Congenital absence of or defects in structures of the jaw.
Download our free solidary book to support research on VHL disease