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.
Ectodermal Dysplasia 1, Anhidrotic
Hypohidrosis
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.
Ectodysplasins
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.
Anodontia
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
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.
Nails, Malformed
Edar Receptor
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.
Hypotrichosis
Presence of less than the normal amount of hair. (Dorland, 27th ed)
Xedar Receptor
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.
Receptors, Ectodysplasin
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.
Denture, Partial, Removable
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.
Ectodermal Dysplasia 3, Anhidrotic
An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
Denture, Complete, Lower
Fibrous Dysplasia of 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).
Nail Diseases
Edar-Associated Death Domain Protein
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.
Cleft Lip
Immunologic Deficiency Syndromes
Sweat Glands
Dentition
Genetic Diseases, X-Linked
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.
Pedigree
Limb Deformities, Congenital
Bronchopulmonary Dysplasia
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.
X Chromosome
Denture Design
Keratins, Type II
Hair
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.
Hair Diseases
Diseases affecting the orderly growth and persistence of hair.
Incontinentia Pigmenti
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.
Keratoderma, Palmoplantar
Hyperpigmentation
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.
Hand Deformities, Congenital
Ectromelia
Genes, Recessive
Genes that influence the PHENOTYPE only in the homozygous state.
I-kappa B Kinase
Photophobia
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.
Ellis-Van Creveld Syndrome
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
Denture, Complete
Alopecia
Absence of hair from areas where it is normally present.
Uterine Cervical Dysplasia
Mutation
Genetic Linkage
Sweat Gland Diseases
Diseases of the SWEAT GLANDS.
Fibromuscular Dysplasia
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.
Denture, Partial
Fibrous Dysplasia, Polyostotic
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.
Foot Deformities, Congenital
Hip Dysplasia, Canine
Cleidocranial Dysplasia
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.
Phenotype
Retinal Dysplasia
Mutation, Missense
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)
Sweating
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.