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.

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.

Abnormally diminished or absent perspiration. Both generalized and segmented (reduced or absent sweating in circumscribed locations) forms of the disease are usually associated with other underlying conditions.

Transmembrane proteins belonging to the tumor necrosis factor superfamily that play an essential role in the normal development of several ectodermally derived organs. Several isoforms of the ectodysplasins exist due to multiple ALTERNATIVE SPLICING of the MRNA for the protein. The isoforms ectodysplasin A1 and ectodysplasin A2 are considered biologically active and each bind distinct ECTODYSPLASIN RECEPTORS. Genetic mutations that result in loss of function of ectodysplasin result in ECTODERMAL DYSPLASIA 1, ANHIDROTIC.

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)

An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.

Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.

Congenital absence of or defects in structures of the teeth.

A ectodysplasin receptor subtype that is specific for ECTODYSPLASIN A1. It signals via the specific signaling adaptor EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. Loss of function of the edar receptor is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA and ECTODERMAL DYSPLASIA 3, ANHIDROTIC.

Presence of less than the normal amount of hair. (Dorland, 27th ed)

An ectodysplasin receptor subtype that is specific for ECTODYSPLASIN A2. Unlike the EDAR RECEPTOR the Xedar receptor signals through direct association with TNF RECEPTOR-ASSOCIATED FACTORS. The protein name derives from the fact that gene that encodes it resides on the X CHROMOSOME.

Members of the TNF receptor family that are specific for ECTODYSPLASIN. At least two subtypes of the ectodysplasin receptor exist, each being specific for a ectodysplasin isoform. Signaling through ectodysplasin receptors plays an essential role in the normal ectodermal development. Genetic defects that result in loss of ectodysplasin receptor function results ECTODERMAL DYSPLASIA.

A partial denture designed and constructed to be removed readily from the mouth.

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.

An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.

A complete denture replacing all the natural mandibular teeth and associated structures. It is completely supported by the oral tissue and underlying mandibular bone.

A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC).

Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.

A tumor necrosis factor receptor-associated factor that acts as a specific signaling adaptor protein for the EDAR RECEPTOR and plays an important role in ectodermal development. It binds to edar receptor via its C-terminal death domain region and to other specific TNF receptor-associated factors via its N-terminal domain. Loss of function of edar-associated death domain protein is associated with AUTOSOMAL RECESSIVE ANHIDROTIC ECTODERMAL DYSPLASIA.

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.

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

Congenital absence of or defects in structures of the mouth.

Sweat-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.

The teeth collectively in the dental arch. Dentition ordinarily refers to the natural teeth in position in their alveoli. Dentition referring to the deciduous teeth is DENTITION, PRIMARY; to the permanent teeth, DENTITION, PERMANENT. (From Jablonski, Dictionary of Dentistry, 1992)

A characteristic symptom complex.

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.

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.

Congenital structural deformities of the upper and lower extremities collectively or unspecified.

A chronic lung disease developed after OXYGEN INHALATION THERAPY or mechanical ventilation (VENTILATION, MECHANICAL) usually occurring in certain premature infants (INFANT, PREMATURE) or newborn infants with respiratory distress syndrome (RESPIRATORY DISTRESS SYNDROME, NEWBORN). Histologically, it is characterized by the unusual abnormalities of the bronchioles, such as METAPLASIA, decrease in alveolar number, and formation of CYSTS.

Congenital fissure of the soft and/or hard palate, due to faulty fusion.

The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.

The plan, delineation, and location of actual structural elements of dentures. The design can relate to retainers, stress-breakers, occlusal rests, flanges, framework, lingual or palatal bars, reciprocal arms, etc.

A keratin subtype that includes keratins that are generally larger and less acidic that TYPE I KERATINS. Type II keratins combine with type I keratins to form keratin filaments.

A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.

Diseases affecting the orderly growth and persistence of hair.

A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.

Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).

Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.

Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.

Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia.

Genes that influence the PHENOTYPE only in the homozygous state.

A protein serine-threonine kinase that catalyzes the PHOSPHORYLATION of I KAPPA B PROTEINS. This enzyme also activates the transcription factor NF-KAPPA B and is composed of alpha and beta catalytic subunits, which are protein kinases and gamma, a regulatory subunit.

Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS.

Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)

A denture replacing all natural teeth and associated structures in both the maxilla and mandible.

Absence of hair from areas where it is normally present.

Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE.

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.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

Diseases of the SWEAT GLANDS.

An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity.

A denture replacing one or more (but not all) natural teeth. It is supported and retained by underlying tissue and some or all of the remaining teeth.

The magnitude of INBREEDING in humans.

Abnormal development of cartilage and bone.

FIBROUS DYSPLASIA OF BONE involving only one bone.

Each of the upper and lower folds of SKIN which cover the EYE when closed.

FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.

Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.

The act and process of chewing and grinding food in the mouth.

A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age.

Benign epidermal proliferations or tumors; some are viral in origin.

Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

The process of exocrine secretion of the SWEAT GLANDS, including the aqueous sweat from the ECCRINE GLANDS and the complex viscous fluids of the APOCRINE GLANDS.

Identification of genetic carriers for a given trait.

Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males.

A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.