Presentation
A review of seventeen ectodermal dysplasias is presented for different diagnosis. [wwww.unboundmedicine.com]
This is in accordance with the dental phenotype of the present OODD-case. [bmcdermatol.biomedcentral.com]
She presented hair, teeth and nail alteratiods, palmo- plantar keratosis, toe syndactyly, and flat feet similar to those of the proposita. [docslide.us]
The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Her mother was similarly affected except for present, although hypoplastic, areolae and nipples. Both were clinically euhidrotic. The disorder was present in 5 other members of the family. [omim.org]
Hematological
- Hemophilia A
Hemophilia A Hemophilia B Immunoglobulin A vasculitis Kawasaki disease Localized scleroderma Mild hemophilia A Mild hemophilia B Moderately severe hemophilia A Moderately severe hemophilia B Polyarticular juvenile idiopathic arthritis Polymyositis Rare [se-atlas.de]
Entire Body System
- Lymphedema
Adams-Oliver syndrome + ADULT syndrome Aloi Tomasini Isaia Syndrome alopecia + Alves Castelo dos Santos Syndrome Anal Sphincter Dysplasia Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema ankyloblepharon-ectodermal defects-cleft [rgd.mcw.edu]
[…] lipoatrophic diabetes Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Amelo-onycho-hypohidrotic syndrome Anhidrotic ectodermal dysplasia with immune deficiency Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema [healthprovidersdata.com]
Blepharo-cheilo-dontic Syndrome Blount Disease Boerhaave Syndrome Bone Anteversion Bone Retroversion Bonneau Syndrome Boudhina Yedes Khiari Syndrome Brachioskeletogenital Syndrome Brachycephalofrontonasal Dysplasia Brachymesophalangy 2 And 5 Breast Cancer Lymphedema [empiregenomics.com]
- Multiple Congenital Anomalies
congenital anomaly Thrombocytopenic purpura, autoimmune Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thumb absence hypoplastic halluces Thumb absent short stature immune deficiency Thumb deformity, alopecia, pigmentation anomaly [mindmappedia.com]
CONGENITAL ANOMALIES 2 Loucks-Innes Syndrome Mehta Lewis Patton Syndrome Microdontia Hypodontia Short Stature Naegeli Syndrome NEMO Mutation with Immunodeficiency Neurocutaneous Syndromes + Nicolaides Baraitser Syndrome Odontomicronychial Dysplasia Odontoonychodermal [rgd.mcw.edu]
congenital anomaly Thrombocytopenia purpura Thrombocytopenia Robin sequence Thrombocytopenia Thrombocytopenic purpura, autoimmune Thrombocytosis Thrombomodulin anomalies, familial Thrombotic microangiopathy, familial Thrush Thumb absence hypoplastic [ipfs.io]
- Nail Abnormality
The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. [bmcdermatol.biomedcentral.com]
Dental defects: Abnormal morphogenesis or absence of teeth as well as enamel defects may occur. [13] Nail dystrophy: Abnormal nail plate formation may result in brittle, thin, ridged, or grossly deformed nails. [emedicine.medscape.com]
Eczema Strabismus Hyperkeratosis Anal atresia Abnormality of dental morphology Clinodactyly of the 5th finger Carcinoma Nail pits Breast hypoplasia Gynecomastia Squamous cell carcinoma Absent nipple Palmoplantar hyperkeratosis Small nail Blepharitis [mendelian.co]
N ¼ 2 Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities (ED, absent dermatoglyphic pattern, changes in nails, and simian crease) Pachyonychia congenita, autosomal recessive Reference (OMIM, whenever [docksci.com]
- Congestive Heart Failure
heart failure; epidermolytic palmoplantar keratoderma Other signs 2420 AMERICAN JOURNAL OF MEDICAL GENETICS PART A PAGNAN AND VISINONI 2421 TABLE III. [docksci.com]
Cardiovascular
- Heart Disease
[…] block * Congenital heart disease ptosis hypodontia craniostosis * Congenital heart disease radio ulnar synostosis mental retardation * Congenital heart septum defect * Congenital hemidysplasia with ichtyosiform erythroderma and limbs defects * Congenital [medicalgeek.com]
Short stature webbed neck heart disease Short stature wormian bones dextrocardia Short syndrome Short t Short tarsus absence of lower eyelashes Shou Shoulder and thorax deformity congenital heart disease Shoulder girdle defect mental retardation familial [sosu.us]
To see all annotations for a disease, click the disease name. [informatics.jax.org]
Treatment and prevention of vitamin B12 deficiency, and diseases caused by low vitamin B12 levels. What is Vitamin B12? Reducing a condition related to heart disease called "hyperhomocysteinemia" when taken with folic acid and vitamin B6. [mominthecity.com]
disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome (CHIME) Hypertrichosis terminalis, generalized, with our without gingival hyperplasia Schinzel–Giedion midface retraction synsdrome Popliteal pterygium syndrome, lethal [docksci.com]
Ears
- Hearing Impairment
Diseases related with Hearing impairment and Sparse hair In the following list you will find some of the most common rare diseases related to Hearing impairment and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]
Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. [rarediseases.info.nih.gov]
- Hearing Problem
Abnormal ear development may cause hearing problems. Cleft palate/lip. Missing fingers or toes (digits). Respiratory infections due to lack of normal protective secretions of the mouth and nose. [healthjade.com]
Musculoskeletal
- Fracture
Thyrocerebrorenal syndrome Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [mindmappedia.com]
Taurodontia-absent teeth-sparse hair syndrome Taurodontism Tricho-dento-osseous syndrome Trichodental syndrome Trichodermodysplasia-dental alterations syndrome Trichodysplasia-amelogenesis imperfecta syndrome Trichoodontoonychial dysplasia Wormian bone-multiple fractures-dentinogenesis [se-atlas.de]
Thyroid cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti–Tn Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [ipfs.io]
Thyroid cancer Thyroid carcinoma, follicular Thyroid carcinoma, papillary (TPC) Thyroid hormone plasma membrane transport defect Thyroid, renal and digital anomalies Ti-Tl Tibia absent polydactyly arachnoid cyst Tibiae bowed radial anomalies osteopenia fracture [bioreference.net]
Eyes
- Corneal Opacity
opacity Everted lower lip vermilion Absent lacrimal punctum Thick vermilion border Underdeveloped nasal alae Hypotrichosis Dysphonia Skin erosion Anhidrotic ectodermal dysplasia Hypoplastic-absent sebaceous glands Periorbital wrinkles Keratitis Malabsorption [mendelian.co]
Eye (ocular) abnormalities may be present, including loss of transparency of the lens of the eyes (cataracts) and/or clouding of the portion of the eyes through which light passes (corneal opacities). [rarediseases.org]
[…] anesthesia deafness mental retardation * Corneal cerebellar syndrome * Corneal crystals myopathy neuropathy * Corneal dystrophy * Corneal dystrophy and perceptive deafness * Corneal dystrophy Avellino type * Corneal dystrophy crystalline of Schnyder [medicalgeek.com]
Skin
- Alopecia
Adams-Oliver syndrome + ADULT syndrome Aloi Tomasini Isaia Syndrome alopecia + Alves Castelo dos Santos Syndrome Anal Sphincter Dysplasia Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema ankyloblepharon-ectodermal defects-cleft [rgd.mcw.edu]
This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia. [docslide.us]
Jun 1st, 2021 - Central centrifugal cicatricial alopecia (CCCA) is the most common form of primary scarring alopecia diagnosed in women of African descent. [allmedx.com]
Diagnosis - Odonto onycho dysplasia with alopecia Not supplied. Prognosis - Odonto onycho dysplasia with alopecia Not supplied. Treatment - Odonto onycho dysplasia with alopecia Not supplied. [checkorphan.org]
The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. [keratin.com]
- Sparse Hair
Sparse hair Chromosome 1q duplication syndrome. sparse hair Chromosome 2, monosomy 2q37. sparse hair Chromosome 22, trisomy. sparse hair Chromosome Xp11.23-p11.22 Duplication syndrome. [tihaf.wordpress.com]
hair * Sparse eyelashes * Sparse eyebrows * Freckles Causes - Ectodermal dysplasia tricho odonto onychial type Not supplied. [checkorphan.org]
Diseases related with Hearing impairment and Sparse hair In the following list you will find some of the most common rare diseases related to Hearing impairment and Sparse hair that can help you solving undiagnosed cases. [mendelian.co]
T cell immunodeficiency primary TRAPS (TNF-receptor-associated periodic syndrome) Taurodontia absent teeth sparse hair Teebi Naguib Alawadi syndrome Teeth noneruption of with maxillary hypoplasia and genu valgum Tel Hashomer camptodactyly syndrome Telangiectasia [mindmappedia.com]
In some types, teeth may be missing and nails may be defective, while in another type there may be missing teeth, inability to sweat, and sparse hair. Still another may have hearing loss and defects of the enamel of the teeth. [nfed.org]
- Hyperkeratosis
Palmoplantar findings range from normal skin to severe hyperkeratosis. Scalp, body, and facial hair may be sparse. Photophobia has been described in a few patients. [genedx.com]
Definition A rare autosomal recessive ectodermal dysplasia characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis [uniprot.org]
Anal atresia Abnormality of dental morphology Clinodactyly of the 5th finger Carcinoma Nail pits Breast hypoplasia Gynecomastia Squamous cell carcinoma Absent nipple Palmoplantar hyperkeratosis Small nail Blepharitis Non-midline cleft lip Absent eyebrow [mendelian.co]
Features were hypodontia, abnormally shaped teeth, scalp hypotrichosis, pili annulati, follicular hyperkeratosis of trunk and limbs, and marked hyperopia (astigmatism also in the brother). [findzebra.com]
Fig. 1 Upper panel : Hyperkeratosis of the palms with erythema, scaling, erosions and fissuring. Dystrophic finger nails with spooning. [bmcdermatol.biomedcentral.com]
- Dry Skin
The patient, the last son in an outbred sibship of four males, presents scalp hypotrichosis, aplasia cutis congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal [wwww.unboundmedicine.com]
OODD is a rare form of autosomal recessive Ectodermal dysplasia involving hair, teeth, Nails, and skin, characterized by Hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, Nail dysplasia, dry skin, Palmoplantar [info.rdi.ku.ac.th]
OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar [semanticscholar.org]
characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles, caused by a mutation in the WNT10A gene. [wellnessadvocate.com]
- Keratosis
[…] congenita of the scalp, dental abnormalities, onychodyplasia, dry skin with hypochromic and atrophic (poikiloderma-like) spots with vicarious (marginal) hyperchromia, unusual facies, asymmetrical skull, absent right nipple, irregular areolae, palmar keratosis [wwww.unboundmedicine.com]
[…] severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis [orpha.net]
Some causes may include: 1 Causes of Nail Dysplasia : 19q13.11 Microdeletion Syndrome 45,X/46,XY Mixed Gonadal Dysgenesis Alopecia Congenita With Keratosis Palmoplantaris Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly Anonychia-Onychodystrophy [familydiagnosis.com]
[…] syndrome Fishman syndrome Keratosis pilaris atrophicans sporadic - (subtype) Papillary renal carcinoma TSEs Bohring syndrome Encephalomyelitis Keratosis Seborrheica malignant - (subtype) Transplacental infections Papillary renal cell carcinoma Transposition [yumpu.com]
Treatment
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]
You need to carry on treatment to maintain the effect. [tihaf.wordpress.com]
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]
Prognosis
Prognosis - Ectodermal dysplasia tricho odonto onychial type Not supplied. Treatment - Ectodermal dysplasia tricho odonto onychial type Not supplied. Resources - Ectodermal dysplasia tricho odonto onychial type Not supplied. [checkorphan.org]
At present, the prognosis of three of the molars is very poor. Fig. 1 Upper panel : Hyperkeratosis of the palms with erythema, scaling, erosions and fissuring. Dystrophic finger nails with spooning. [bmcdermatol.biomedcentral.com]
Oftalm., 127, 21 – 25. 3 ( 2003 ) Risk factors and prognosis for corneal ectasia after LASIK. Ophthalmology, 110, 267 – 275. 4 ( 2013 ) Insights into keratoconus from a genetic perspective. [academic.oup.com]
Etiology
Oct 28th, 2019 - Frontal fibrosing alopecia (FFA) is a cicatricial alopecia of unknown etiology. The incidence of FFA appears to be increasing with time, leading to suspicion of a possible environmental trigger. [allmedx.com]
Miscellaneous etiologies A report from 2014 suggests that hepatitis B may have played a role in the development of congenital onychodysplasia of the index fingers. [9] The role of infection is unclear but warrants further consideration. [emedicine.medscape.com]
Their enormous clinical variability and their etiological heterogeneity may result in difficulties for the establishment of a syndromic diagnosis. [docksci.com]
Because of the complexities of it is out of the question to name the specific etiology, the mixed DSD heading (regard later) provides a basis for decidedness making. [waittfoundation.org]
Epidemiology
Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]
"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]
Pathophysiology
A genetic mechanism most likely underlies the pathophysiology of congenital onychodystrophy of the index finger (COIF). [5, 6]. Most cases are sporadic, but autosomal dominant transmission has been described. [emedicine.medscape.com]
Prevention
Prevention - Ectodermal dysplasia tricho odonto onychial type Not supplied. [checkorphan.org]
And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]
Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]
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]