ORPHA:1660 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood ICD-10: Q82.4 OMIM: 125640 UMLS: C1852144 MeSH: - GARD: 1816 MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
There is typically hypodontia with microdontia.We present an unusual case of ED with severe hypodontia and macrodontia affecting all first permanent molar teeth.We also consider the classification and presentation of this disorder.[jocpd.org]
Individuals affected by ED present variable clinical and physical manifestations ².[scielo.br]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Physicians, Nurse Practitioners and PAs, already on Doximity.[doximity.com]
Such specialists may include pediatricians or internists, physicians who treat disorders of the skin (dermatologists), dental specialists, physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists), allergists, and/or[rarediseases.org]
When choosing a physician, demand nothing less. Remember......."Quality Matters" Register now and receive exclusive access to web site content that is only available to registered members.[crutchfielddermatology.com]
Authors’ contributions AB was the treating physician and performed the clinical evaluation. HG performed the dental evaluation and description. OC was the pathologist on the case and performed the histopathological examination of skin biopsies.[springermedizin.de]
Sparse and often light pigmented scalp hair, eyebrow, eyelashes with nailabnormality is common. In our cases they show light pigmented sparse hair, eyebrows, eyelashes without nailabnormalities.[jemds.com]
The skin and nailabnormalities were for many years interpreted as psoriasis and treated accordingly.[pubfacts.com]
Many patients are not diagnosed until infancy or childhood, when dental anomalies, nailabnormalities, or alopecia become apparent. AEC or Hay-Wells syndrome may manifest at birth as ankyloblepharon in association chronic scalp erosions.[emedicine.medscape.com]
Sparse and often light pigmented scalp hair, eyebrow, eyelashes with nailabnormality is common. In our cases they show light pigmented sparse hair, eyebrows, eyelashes without nailabnormalities.[jemds.com]
The skin and nailabnormalities were for many years interpreted as psoriasis and treated accordingly.[pubfacts.com]
Many patients are not diagnosed until infancy or childhood, when dental anomalies, nailabnormalities, or alopecia become apparent. AEC or Hay-Wells syndrome may manifest at birth as ankyloblepharon in association chronic scalp erosions.[emedicine.medscape.com]
Surgicalprocedures such as repairing a cleft palate may lessen facial deformities and improve speech. Wigs may be worn to improve the appearance of patients with little or no hair.[dermnetnz.org]
Affiliated tissues include skin, and related phenotypes are thin skin and microdontia Wikipedia : 77 Dermoodontodysplasia is dental problems, trichodysplasia, and nail and skin... more...[malacards.org]
Showing of 18 80%-99% of people have these symptoms Ectodermal dysplasia 0000968 Fingernail dysplasia Abnormal fingernail development 0100798 Microdontia Decreased width of tooth 0000691 Reduced number of teeth Decreased tooth count 0009804 Sparse body[rarediseases.info.nih.gov]
The signs and symptoms of Dermoodontodysplasia may include the following: Very frequently present symptoms in 80-99% of the cases: Ectodermal dysplasia Fingernail dysplasia Microdontia Reduced number of teeth Sparse body hair Sparse scalp hair Thin skin[dovemed.com]
Microdontia Radiograph (X-ray) showing microdontia. Note also periapical lesion on the maxillary left lateral incisor. Specialty Dentistry Microdontia is a condition in which one or more teeth appear smaller than normal.[en.wikipedia.org]
The WNT10A gene in Ectodermal Dysplasias and SelectiveToothAgenesis. Am J Med Genet A. 2014;164:2455–60. CrossRef PubMedCentral 9. Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, McGrath JA.[springermedizin.de]
The WNT10A gene in ectodermal dysplasias and selectivetoothagenesis. Am J Med Genet A. 2014 Oct. 164A (10):2455-60. [Medline]. Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, et al.[emedicine.medscape.com]
The WNT10A gene in Ectodermal Dysplasias and SelectiveToothAgenesis. Am J Med Genet A. 2014;164:2455–60. 9. Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, McGrath JA.[bmcdermatol.biomedcentral.com]
The WNT10A gene in ectodermal dysplasias and selectivetoothagenesis. Am J Med Genet A . 2014 Oct. 164A (10):2455-60. [Medline] . Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, et al.[emedicine.medscape.com]
[…] sweating Sweating, decreased [ more ] 0000966 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Melanocytic nevus Beauty mark 0000995 Ptosis[rarediseases.info.nih.gov]
Microdontia Reduced number of teeth Sparse body hair Sparse scalp hair Thin skin Toenail dysplasia Trichodysplasia Frequently present symptoms in 30-79% of the cases: Abnormal dermatoglyphics Abnormality of the eyelid Dry skin Hypohidrosis Melanocytic nevus Ptosis[dovemed.com]
Diseases related with Ptosis and Ectodermal dysplasia In the following list you will find some of the most common rare diseases related to Ptosis and Ectodermal dysplasia that can help you solving undiagnosed cases.[mendelian.co]
Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly, skull asymmetry and mild syndactyly) (Saethre-Chotzen syndrome with eyelid anomalies, included) (Blepharophimosis, epicanthus inversus, and ptosis[becomerich.lab.u-ryukyu.ac.jp]
[…] are four primary ectodermal dysplasia (ED) defects: ED1: trichodysplasia (hair dysplasia) ED2: dental dysplasia ED3: onychodysplasia (nail dysplasia) ED4: dyshidrosis (sweat gland dysplasia) These are further categorized into a number of subgroups. sparse[radiopaedia.org]
Examination revealed frontal bossing, depressed nasal bridge and sunken cheeks, xerotic skin, dry thin lusterless sparsehair over the scalp and eyelashes [Figure 1] and [Figure 2]. Lips were thick, full and everted [Figure 3].[idoj.in]
Signs & Symptoms HED is characterized by lack of or diminished sweating (anhidrosis or hypohidrosis), abnormally sparsehair (hypotrichosis), and/or absence (hypodontia) and/or malformation of certain teeth.[rarediseases.org]
Odonto-onycho-dermal dysplasia may have hypodontia, sparsehair, onychodysplasia but have hyperhidrosis of palms and soles. Genetic evaluation in HED have shown gene locus on Xq11-21.1 mutations.[odermatol.com]
It is characterised by signs of variable severity: dry and thinskin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far.[malacards.org]
It is characterised by signs of variable severity: dry and thinskin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely.[orpha.net]
The signs and symptoms of Dermoodontodysplasia may include the following: Very frequently present symptoms in 80-99% of the cases: Ectodermal dysplasia Fingernail dysplasia Microdontia Reduced number of teeth Sparse body hair Sparse scalp hair Thinskin[dovemed.com]
Abnormal toenail development 0100797 Trichodysplasia 0002552 30%-79% of people have these symptoms Abnormal dermatoglyphics Abnormal fingerprints 0007477 Abnormal eyelid morphology Abnormality of the eyelid Abnormality of the eyelids [ more ] 0000492 Dry[rarediseases.info.nih.gov]
skin Hypohidrosis Melanocytic nevus Ptosis In addition to the above signs and symptoms, dental abnormalities may also be present.[dovemed.com]
Background : Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dryskin, hypotrichosis, and hyperhidrosis of the palms and soles.[pubfacts.com]
The phenotypic appearance includes severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dryskin, hypotrichosis, and hyperhidrosis of the palms and soles.[bmcdermatol.biomedcentral.com]
The extraoral clinical examination showed an ED characteristic face presenting smooth, dry skin, scarce and diminished body hair, sparse eyelashes and eyebrows, deformed and brittle nails, low set ears, saddle-shaped nose, smallface, short stature and[scielo.br]
Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a smallface and jaw relative to head size.[findzebra.com]
The complications of Dermoodontodysplasia may include: Problems with ingestion of food owing to dental problems Lowself-esteem Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected.[jamanetwork.com]
The complications of Dermoodontodysplasia may include: Problems with ingestion of food owing to dental problems Low self-esteem Complications may occur with or without treatment, and in some cases, due to treatment also.[dovemed.com]
Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.de]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
Orthoodontic and prosthodontic treatment of ectodermal dysplasia: A case report. Br Dent J 2004; 196:677-9. What is new? Early and extensive dental treatment is needed throughout childhood.[e-ijd.org]
PMID: 28579538 Free PMC Article Prognosis Thay S, Peprah SA, Hur C, Tramontano AC, Maling E, Goldstein AT, Hong C Asian Pac J Cancer Prev 2019 Feb 28;20(2):653-659. doi: 10.31557/APJCP.2019.20.2.653.[ncbi.nlm.nih.gov]
Importance of tumour thickness measurement in prognosis of tongue cancer MA Gonzalez-Moles, F Esteban, A Rodriguez-Archilla, I Ruiz-Avila, ...[scholar.google.it]
(Etiology) The exact underlying cause of Dermoodontodysplasia is currently unknown The disorder is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy[dovemed.com]
[from SNOMEDCT_US ] Etiology Fokom Domgue J, Messick C, Milbourne A, Guo M, Salcedo MP, Dahlstrom KR, Chiao EY, Deshmukh AA, Sturgis EM, Schmeler KM Gynecol Oncol 2019 May;153(2):266-270. Epub 2019 Mar 1 doi: 10.1016/j.ygyno.2019.02.024.[ncbi.nlm.nih.gov]
While in our case, the most appropriate etiology that can be thought of is syndromal involvement (ILVEN).[ijdentistry.com]
Etiology This syndrome is inherited in an autosomal dominant fashion and is due to mutations in the gap junction beta 6 (GJB6) gene that is located on chromosome 13q12 and encodes for the protein connexin 30.[dermatologyadvisor.com]
The etiology remains unknown, but theories include an alteration that occurs in utero or in in-fancy; the possibility of a systemic or endocrine aberration; a postzygotic mutation resulting in genotypic and phenotypic mosaicism of bone and skin, similar[mdedge.com]
Such teeth may be restored to resemble normal sized teeth, [2] typically with composite build ups or crowns. [4] Orthodontics may be required in severe cases to close gaps between the teeth. [4] Epidemiology [ edit ] Females are affected more than males[en.wikipedia.org]
A Clinical, Genetic and Epidemiological Study . Baltimore : Johns Hopkins Press . Goodman , R.M. , Gorlin , R.J. 1970 . The Face in Genetic Disorders . Saint Louis : The C.V. Mosby Co. Gorlin , R.J. , Pindborg , J.J. 1964 .[cambridge.org]
A Clinical, Genetic and Epidemiological Study. Baltimore : Johns Hopkins Press. Goodman, R.M., Gorlin, R.J. 1970. The Face in Genetic Disorders. Saint Louis : The C.V. Mosby Co. Gorlin, R.J., Pindborg, J.J. 1964. Syndromes of the Head and Neck.[cambridge.org]
[…] oral calcium release-activate calcium modulator 1. [41] Odonto-onycho-dermal dysplasia (OODD), Schopf-Schultz-Passarge syndrome, selective tooth agenesis, and related forms of ectodermal dysplasia are caused by mutations in WNT10A. [42, 43, 44, 45] Epidemiology[emedicine.medscape.com]
Pathophysiology Manifestations of the syndrome are due to mutations in connexin 30, which is a gap junction protein that functions to form channels between cells allowing diffusion of ions and metabolites, therefore affecting cell-to-cell coupling and[dermatologyadvisor.com]
Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous and/or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present.[emedicine.medscape.com]
The treatment is usually given to manage the signs and symptoms and any complication that may develop How can Dermoodontodysplasia be Prevented? Currently, Dermoodontodysplasia may not be preventable, since it is a genetic disorder.[dovemed.com]
Artificial tears can be used to prevent damage to the cornea in patients with defective tear production. Saline sprays can also be helpful. Saline irrigation of the nasal mucosa may help to remove purulent debris and prevent infection.[dermnetnz.org]
Physicians may recommend that impacted nasal secretions be carefully removed on a regular basis to help prevent or limit the severity of rhinitis.[rarediseases.org]
[…] nasal bridge (saddle nose) gives the impression of a small sized face. [5] Treatment is symptomatic management that involves multidisciplinary approaches as oral rehabilitation, restorative procedures, and maintenance of cool, ambient temperature to prevent[idoj.in]
Although such tissue does not have an increased malignant potential compared with the normal breast and prophylactic excision for cancer prevention is not required, routine screening should be performed with periodic physical examination and radiologic[crutchfielddermatology.com]