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]
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: - OMIM: 275450 UMLS: C3502453 MeSH: - GARD: 5267 MedDRA: - The documents contained in this web site are presented [orpha.net]
Entire Body System
- 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]
Musculoskeletal
- Leg Length Inequality
Length Inequality Lelis Syndrome Lenz Majewski Hyperostotic Dwarfism Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis Leukonychia Totalis + LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 Lissencephaly Type III and [rgd.mcw.edu]
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]
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]
This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia. [docslide.us]
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]
Genetic Heterogeneity of Alopecia-Mental Retardation SyndromeAlopecia-mental retardation syndrome-1 (APMR1) has been mapped to chromosome 3q26.3-q27.3. [mendelian.co]
- Yellow Nails
[…] nonsyndromic congenital nail disorder 1 nonsyndromic congenital nail disorder 10 nonsyndromic congenital nail disorder 2 nonsyndromic congenital nail disorder 3 nonsyndromic congenital nail disorder 4 nonsyndromic congenital nail disorder 5 nonsyndromic [rgd.mcw.edu]
[…] immunodeficiency / X-linked sideroblastic anemia / X-linked susceptibility to autism-4 / X-linked thrombocytopenia / Xanthinuria type 1 / Xanthinuria type 2 / Xeroderma pigmentosum / XFE progeroid syndrome / XK aprosencephaly / Xp22.3 microdeletion syndrome / Yellow [gennome.com]
Neurologic
- Spastic Paralysis
Paralysis paronychia Patel Bixler Syndrome Patterson Pseudoleprechaunism Syndrome Pectus Carinatum Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair Pfeiffer Palm Teller Syndrome [rgd.mcw.edu]
[…] paraplegia 18 / Spastic paraplegia 19 / Spastic paraplegia 2 / Spastic paraplegia 23 / Spastic paraplegia 24 / Spastic paraplegia 25 / Spastic paraplegia 26 / Spastic paraplegia 29 / Spastic paraplegia 3 / Spastic paraplegia 31 / Spastic paraplegia 32 [gennome.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]
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
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]
Orthodonti: Anomalies, Sefalometri, Etiology, Bring Up andGrow up, Diagnosis. Istanbul: University of Yeditepe, Faculty ofDentistry;2000;2:9596.12. Hamamc O, Kama J, Baran S. Analysis of soft tissue facial profile inmales in different age groups. [vdocuments.mx]
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]
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]
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]