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Group of genetic conditions affecting the embryonic ectoderm
Ectodermal dysplasia (ED) refers to a group of genetic disorders characterized by the abnormal development or function of two or more structures that originate
Ectodermal_dysplasia
Medical condition
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal dysplasia in humans. These disorders result in the development of structures
Hypohidrotic ectodermal dysplasia
Hypohidrotic_ectodermal_dysplasia
Medical condition
one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and
Hay–Wells_syndrome
Medical condition
Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome
Ectrodactyly–ectodermal_dysplasia–cleft_syndrome
Outer germ layer of embryonic development
of the mutations involved with an ectodermal dysplasia subtype have been identified. Hypohidrotic ectodermal dysplasia (HED) is the most common subtype
Ectoderm
Medical condition
Arthrogryposis multiplex due to muscular dystrophy. Arthrogryposis ectodermal dysplasia other anomalies, also known as Cote Adamopoulos Pantelakis syndrome
Arthrogryposis
Medical condition
the hair cells, and the sweat glands. It is a type of syndromic ectodermal dysplasia. Individuals with this condition typically have the following symptoms:
Odontoonychodermal_dysplasia
Medical condition affecting scalp hair
Clouston's hidrotic ectodermal dysplasia is a medical condition caused by mutations in a connexin gene, GJB6 or connexin-30, characterized by scalp hair
Clouston's hidrotic ectodermal dysplasia
Clouston's_hidrotic_ectodermal_dysplasia
American policy analyst and nonprofit executive
hypo-hidrotic ectodermal dysplasia (XLHED). He sought to help and encourage others with XLHED through the National Foundation of Ectodermal Dysplasias. In 2021
Patrick_M._Brenner
Medical condition
Palmoplantar ectodermal dysplasia is a cutaneous condition. Types include:[citation needed] Palmoplantar ectodermal dysplasia type 1 or Pachyonychia congenita
Palmoplantar ectodermal dysplasia
Palmoplantar_ectodermal_dysplasia
Medical condition
Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized
Tetra-amelia_syndrome
Medical condition
Hypohidrotic/anhidrotic ectodermal dysplasia with immune deficiency is a rare genetic condition characterized by a combination of the features of ectodermal dysplasia alongside
Hypohidrotic ectodermal dysplasia with immune deficiency
Hypohidrotic_ectodermal_dysplasia_with_immune_deficiency
Absence of the breast and nipple
only medical condition) or comorbid with other syndromes, such as ectodermal dysplasia, Syndactyly (Poland's syndrome) and lipoatrophic diabetes. This abnormality
Amastia
Malformation of the central digit(s) of the hand or foot
syndrome (ectrodactyly–ectodermal dysplasia–cleft syndrome). The p63 gene plays a critical role in the development of the apical ectodermal ridge (AER), this
Ectrodactyly
Medical condition
Ectodermal dysplasia with corkscrew hairs is a skin condition with salient features including exaggerated pili torti, scalp keloids, follicular plugging
Ectodermal dysplasia with corkscrew hairs
Ectodermal_dysplasia_with_corkscrew_hairs
Medical condition
tract infections. It is an autosomal recessive variant of ectodermal dysplasia. Ectodermal dysplasia has a rare incidence estimated between 1/10,000 – 1/100
ANOTHER_syndrome
Genetic skin disease
inherited in this kind of mode include fabry disease, anhidrotic ectodermal dysplasia, dyskeratosis congenita and so on. Multiple-gene inheritance of genodermatosis
Genodermatosis
Rare human genetic disease
syndrome) is a rare genetic disease. It is an autosomal dominant form of ectodermal dysplasia, a group of disorders that affects the hair, teeth, nails, sweat
ADULT_syndrome
Medical condition
lip/palate-ectodermal dysplasia syndrome, ectodermal dysplasia 4, hair/nail type, ectodermal dysplasia with corkscrew hairs, ectrodactyly, ectodermal dysplasia,
Pili_torti
Medical condition
Holden ST, et al. (September 2010). "Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder"
Rapp–Hodgkin_syndrome
Dystrophic epidermolysis bullosa Ectodermal dysplasia Ectodermal dysplasia with corkscrew hairs Ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC syndrome
List_of_skin_conditions
Absence of all primary or permanent teeth at birth
associated with the group of skin and nerve syndromes called the ectodermal dysplasias. Anodontia is usually part of a syndrome and seldom occurs as an
Anodontia
Medical condition
EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessive congenital malformation disorder affecting
EEM_syndrome
Medical condition
hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and
Pure hair-nail type ectodermal dysplasia
Pure_hair-nail_type_ectodermal_dysplasia
Abnormally reduced sweating
X-linked hypohidrotic ectodermal dysplasia Incontinentia pigmenti Acrokeratosis paraneoplastica of Bazex Ectodermal dysplasia Fabry disease Miliaria
Hypohidrosis
American actor
an American character actor. Berryman was born with hypohidrotic ectodermal dysplasia, a rare condition characterized by the absence of sweat glands, hair
Michael_Berryman
Medical condition
associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia". The Journal of Pediatrics. 75 (4): 675–684. doi:10.1016/s0022-3476(69)80465-8
Short-limb skeletal dysplasia with severe combined immunodeficiency
Short-limb_skeletal_dysplasia_with_severe_combined_immunodeficiency
Absence of the nipple
children with the Poland sequence and on both sides in certain types of ectodermal dysplasia. Athelia, A-thelia, from the Greek "A", without, and "thelium" (singular)
Athelia_(disease)
Medical condition
a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of
Dermatopathia pigmentosa reticularis
Dermatopathia_pigmentosa_reticularis
Dog with disposition for hairlessness
a dominant and a recessive type. The dominant type is caused by ectodermal dysplasia as a result of a mutation in the FOXI3 autosomal gene. Dogs with
Hairless_dog
Developmental absence of one or more teeth excluding the third molars
cause ectodermal dysplasia, which is also known as X-linked hypohidrotic ectodermal dysplasia. Common dental features of ectodermal dysplasia are multiple
Hypodontia
Rare scalp hair shaft dysplasia
syndrome such as Rapp–Hodgkin ectodermal dysplasia syndrome, loose anagen syndrome, EEC syndrome (ectodermal dysplasia, ectrodactyly and cleft lip/palate)
Uncombable_hair_syndrome
Protein-coding gene in the species Homo sapiens
glands. Mutations in this gene have been associated with hypohidrotic ectodermal dysplasia, a disorder characterized by a lower density of sweat glands. A derived
Ectodysplasin_A_receptor
Hairless dog breed from Mexico
from pre-colonial dogs. Their phenotype is a consequence of canine ectodermal dysplasia caused by a mutation on the FOXI3 autosomal gene. The breed did not
Xoloitzcuintle
American YouTuber (born 1992)
born on November 9, 1992, in Detroit, Michigan. He was born with ectodermal dysplasia, a rare genetic disorder that caused him to lack a full set of teeth
CoryxKenshin
Medical condition
Zlotogora–Ogur syndrome and Bowen–Armstrong syndrome, is a type of congenital ectodermal dysplasia syndrome. The syndrome is relatively rare and has only been described
Rosselli–Gulienetti_syndrome
Medical condition
Skin fragility syndrome (also known as "plakophilin 1 deficiency") is a cutaneous condition characterized by trauma-induced blisters and erosions. It is
Skin_fragility_syndrome
Medical condition
palmoplantar keratoderma with carcinoma of the esophagus," "Palmoplantar ectodermal dysplasia type III," "palmoplantar keratoderma associated with esophageal cancer
Howel–Evans_syndrome
Medical condition
apical ectodermal ridge during upper limb development, intrauterine compression, or maternal drug use (thalidomide). Classification of radial dysplasia is
Radial_dysplasia
Medical condition
oral mucosal hyperkeratosis Camisa disease Ectodermal dysplasias Clouston's hidrotic ectodermal dysplasia Acrokeratotic poikiloderma Dermatopathic pigmentosa
Keratoderma
Syndromes
congenita Dysplastic nevus syndrome Eagle syndrome Ectrodactyly–ectodermal dysplasia–cleft syndrome Edwards syndrome EEM syndrome Egg drop syndrome Ehlers–Danlos
List_of_syndromes
Medical condition
malformation of the fourth and fifth fingers. It is considered a kind of ectodermal dysplasia. People with ODD syndrome often have a characteristic appearance
Oculodentodigital_dysplasia
Medical condition
palmoplantar keratoderma of the Gamborg-Nielsen type", "palmoplantar ectodermal dysplasia type VIII", and "palmoplantar keratoderma of the Norrbotten type")
Meleda_disease
Medical condition
dermatological and dental findings characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Other
Lelis_syndrome
Developmental anomaly of fewer fingers and toes
P.; Fryns, J.P. (1998). "Ectodermal dysplasia, Rapp–Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in
Oligodactyly
Medical condition
loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental
Johanson–Blizzard_syndrome
Breed of cat
of the hair shaft. In humans, LPAR6 mutations result in a form of ectodermal dysplasia characterised by a woolly hair phenotype. The distinctive look of
Cornish_Rex
Piece of clothing to lower body temperatures
welders, as well as individuals with multiple sclerosis, hypohidrotic ectodermal dysplasia, or various types of sports injuries. Cooling vests range in weight
Cooling_vest
Malformation of the face
of the treatment of the syndrome. Related articles Ectrodactyly–ectodermal dysplasia–cleft syndrome Cleft hand Cleft lip and palate Syndromes Treacher
Craniofacial_cleft
Breed of cat
causing hairlessness in Peterbalds and Donskoys could cause feline ectodermal dysplasia in its homozygous form, causing problems including poor dentition
Donskoy_cat
Ectodermal dysplasia absent dermatoglyphics Ectodermal dysplasia adrenal cyst Ectodermal dysplasia alopecia preaxial polydactyly Ectodermal dysplasia
List_of_diseases_(E)
Medical condition
Suárez-Fernández, Ricardo; Campos-Dominguez, Minia (March 2021). "Ectodermal dysplasia with congenital adermatoglyphia (Basan syndrome): Report of two cases
Absence of fingerprints-congenital milia syndrome
Absence_of_fingerprints-congenital_milia_syndrome
Medical condition
AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes. AREDLYD is categorized as a rare disease, meaning it affects fewer than 200
AREDYLD_syndrome
Small sweat-producing tubular skin structures
leading to higher concentrations of chloride in the secreted sweat. Ectodermal dysplasia can present a lack of sweat glands. Fabry disease, characterized
Sweat_gland
Medical condition
such as Ehlers–Danlos syndromes, Marfan syndrome, and hypohidrotic ectodermal dysplasia., it often appears alongside arachnodactyly and/or dolichostenomelia
Dolichonychia
Medical condition
is seen in association with: Hay–Wells syndrome: Ankyloblepharon-Ectodermal dysplasia-Clefting (AEC) syndrome also known as Hay-Wells syndrome is a rare
Ankyloblepharon
Medical condition
Campomelic dysplasia (CMD) is a genetic disorder characterized by bowing of the long bones and many other skeletal and extraskeletal features. It can
Campomelic_dysplasia
Protein-coding gene in humans
KRT74 is a keratin gene. Mutations in KRT74 cause hair and nail ectodermal dysplasia. Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M,
KRT74
Medical condition
B.; Van Creveld, S.: A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases
Ellis–Van_Creveld_syndrome
Medical condition
eyelashes. It belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin
Setleis_syndrome
South African hip hop duo
adopted Gabriel du Preez, a then–nine-year-old with hypohidrotic ectodermal dysplasia from Vrededorp, after Ben Jay Crossman, a photographer who frequently
Die_Antwoord
Skin condition characterized by small bumps caused by overproduction of keratin
disability, neuro-cardio-facial-cutaneous syndromes, RASopathies, ectodermal dysplasias, and certain myopathies. Physicians can often diagnose KP simply
Keratosis_pilaris
Protein-coding gene in the species Homo sapiens
identified by its association with ectodermal dysplasia, and specifically with hypohidrotic ectodermal dysplasia, a genetic disorder characterized by
EDARADD
Dog breed
Taylor. "Genetic mapping of canine multiple system degeneration and ectodermal dysplasia Loci". Journal of Heredity 96 (7):727–34, 2005. "Orthopedic Foundation
Chinese_Crested_Dog
Medical condition
TNDM1 TP63 Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8 Transcription coregulators
Pitt–Hopkins_syndrome
Medical condition
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following
Frontonasal_dysplasia
Medical condition
Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function
Naegeli–Franceschetti–Jadassohn syndrome
Naegeli–Franceschetti–Jadassohn_syndrome
Protein-coding gene in humans
this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants
Ectodysplasin_A
Biometric identifier
and dermatopathia pigmentosa reticularis, which are both forms of ectodermal dysplasia, also have no fingerprints. Both of these rare genetic syndromes
Fingerprint
Birth defect that affects the ears
cardiomyopathy-hypergonadotropic hypogonadism syndrome Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 and 3 Epidermolysis bullosa simplex
Microtia
Medical condition
aplasia cutis congenita: OMIM 136500) and Setleis syndrome (facial ectodermal dysplasia: OMIM 227260). This condition is characterised by symmetrical lesions
Focal_facial_dermal_dysplasia
Topics referred to by the same term
defined by abnormal eating habits Ectodermal dysplasia, a group of syndromes deriving from abnormalities of the ectodermal structures Effective dose (pharmacology)
Ed
British tennis player (born 2000)
seven toes, as a result of a rare genetic condition, ectrodactyly–ectodermal dysplasia–cleft syndrome (EEC). (W) winner; (F) finalist; (SF) semifinalist;
Francesca_Jones_(tennis)
Medical condition
cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development. anodontia/oligodontia—no
Zadik–Barak–Levin_syndrome
Protrusion of the bones of the skull, typically the forehead
Crouzon syndrome Cryopyrin-Associated Periodic Syndrome (CAPS – PFS) Ectodermal dysplasia Extramedullary hematopoiesis Fragile X syndrome Hurler syndrome Osteopathia
Skull_bossing
Medical condition
have been reported with salivary gland aplasia include hereditary ectodermal dysplasia, mandibulofacial dysostosis and hemifacial microsomia. The main significance
Salivary_gland_aplasia
Medical condition
syndrome, dying at 31 months. Cortes Lacassie syndrome is a form of ectodermal dysplasia, postulated to be a new type of the group of tricho-odonto-onychic
Cortes_Lacassie_syndrome
Medical condition
syndrome Pfeiffer syndrome Smith–Lemli–Opitz syndrome Timothy syndrome Ectodermal dysplasia Klippel–Feil syndrome The condition is normally discovered at birth
Webbed_toes
Medical condition
described it between 1978 and 1982. It is an autosomal dominant type of ectodermal dysplasia. Its estimated incidence is 2 in 10,000. It is associated with MSX1
Tooth_and_nail_syndrome
Protein-coding gene in the species Homo sapiens
formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. PKP1 has been shown to interact with Desmoplakin
Plakophilin-1
Garment worn inside a spacesuit for cooling and ventilation
medical sphere, LCVGs have been used for conditions like hypohidrotic ectodermal dysplasia, where patients are unable to sweat and regulate body temperature
Liquid cooling and ventilation garment
Liquid_cooling_and_ventilation_garment
Genetic disease resulting in abnormal formation or function of cilia
syndrome 216550 VPS13B Craniofrontonasal dysplasia 304110 EFNB1 Dysgnathia complex 202650 Ectrodactyly–ectodermal dysplasia–cleft syndrome type 1 129900
Ciliopathy
integumentary system Abnormality Condition(s) Pegged teeth Hypohidrotic ectodermal dysplasia Incontinentia pigmenti Congenital syphilis Pitted teeth Herlitz variant
List of dental abnormalities associated with cutaneous conditions
List_of_dental_abnormalities_associated_with_cutaneous_conditions
Medical condition
loss-heart defect syndrome Ectodermal dysplasia 13, hair/tooth type Fanconi anemia, complementation group S Focal facial dermal dysplasia type III Fontaine progeroid
Low_anterior_hairline
syndrome Diphallia Diprosopus Distal trisomy 10q Down syndrome Dwarfism Ectodermal dysplasia Ectopia cordis Ectrodactyly Edwards syndrome Encephalocele Epidermolysis
List_of_congenital_disorders
Medical condition
and absent thumbs, while PPS with Ectodermal Dysplasia is differentiated by woolly hair, brittle nails, ectodermal anomalies, and fissure of the sacral
Popliteal_pterygium_syndrome
Cell junction involved in cell-to-cell adhesion
manifests as rupture of the basal epidermis when stress is applied. Ectodermal dysplasia or skin fragility syndrome is caused by plakophilin 1 mutations.
Desmosome
New Zealand artist and skateboarder
suburb of Glenn Innes in Auckland, New Zealand. Hawken was born with ectodermal dysplasia, a hereditary condition which affects his hair and teeth. As a result
Levi_Hawken
Arthrogryposis Arthrogryposis due to muscular dystrophy Arthrogryposis ectodermal dysplasia other anomalies Arthrogryposis epileptic seizures migrational brain
List_of_diseases_(A)
Internet meme from New Zealand
skateboarder (for Sector 9) from Dunedin, New Zealand who suffers from ectodermal dysplasia. The condition caused his hair and teeth to grow abnormally, which
Nek_minnit
Protein-coding gene in humans
two isoforms of ectodysplasin that are encoded by the anhidrotic ectodermal dysplasia (EDA) gene. Mutations in EDA give rise to a clinical syndrome characterized
Ectodysplasin_A2_receptor
Topics referred to by the same term
(IATA:HED) HED meteorite, a class of stony space debris Hypohidrotic ectodermal dysplasia, a genetic syndrome in humans Search for "hed" or "h-e-d" on Wikipedia
Hed
Medical condition
recessive multisystem congenital disorder which affects the skeletal system, ectodermal tissue, heart and respiratory system. It was first described by Emilio
Yunis–Varon_syndrome
Molar condition in which the root is relatively short
syndrome, Mohr syndrome, Wolf-Hirschhorn syndrome, Lowe syndrome, ectodermal dysplasia and tricho-dento-osseous syndrome. Taurodontism may be related to:
Taurodontism
Pluripotent stem cell generated directly from a somatic cell
For instance, iPS cell lines derived from patients affected by ectodermal dysplasia syndrome (EEC), in which the p63 gene is mutated, display abnormal
Induced_pluripotent_stem_cell
Medical condition
be associated with Melkersson–Rosenthal syndrome, and hereditary ectodermal dysplasia. Purkait SK (1 June 2011). Essentials of Oral Pathology. JP Medical
Salivary_gland_hypoplasia
Mode of inheritance
sleep apnea, and enlargement of the liver and spleen. Hypohidrotic ectodermal dysplasia, presenting with hypohidrosis, hypotrichosis, and hypodontia Kabuki
X-linked recessive inheritance
X-linked_recessive_inheritance
Autoimmune condition causing dysfunction of endocrine glands
may also be known as autoimmunity endocrinopathy candidiasis ectodermal dystrophy / dysplasia (APECED),[citation needed] autoimmune polyglandular syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune_polyendocrine_syndrome_type_1
Aspect of homeostasis
Induced hypothermia Erythromelalgia (hyperthermia) Hypohidrotic ectodermal dysplasia Thermogenesis Poikilothermia Guyton, A.C., & Hall, J.E. (2006). Textbook
Human_thermoregulation
Protein-coding gene in humans
in the IKBKG gene results in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. Incontinentia Pigmenti
IKBKG
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