Presentation
Onychodystrophy may be present. [orpha.net]
Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. [books.google.de]
Symptoms via clinical synopsis from OMIM: 57 Head And Neck Mouth: cleft palate cleft lip Head And Neck Eyes: sparse eyelashes sparse eyebrows Skin Nails Hair Skin: palmoplantar hyperkeratosis hypohidrosis may be present Skeletal Feet: syndactyly, cutaneous [malacards.org]
[…] elaboration of an… (More) Elena Rocco, Massimo Warglien 1996 An experiment on how communication affects cooperation in a social dilemma shows that computer mediated communication (CMC) and… (More) Minna Haapanen Scandinavian journal of plastic and… 1992 The present [semanticscholar.org]
Jaw & Teeth
-
Abnormal Teeth
Clinical description Zlotogora-Ogur syndrome is a congenital disorder characterized by sparse and twisted hair ( pili torti ) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia [orpha.net]
Musculoskeletal
-
Lordosis
Additional features including intellectual disability, deafness, hypoplastic lacrimal puncta, nipple anomalies, genitourinary abnormalities (hypoplastic scrotum and presence of the testes in the inguinal canal), and lumbar lordosis may be observed. [orpha.net]
Skin
-
Sparse, Abnormal Hair
abnormal hair Skeletal Hands: syndactyly, cutaneous Head And Neck Ears: anteverted ears Skin Nails Hair Nails: onychodysplasia may be present [malacards.org]
Treatment
There is no specific treatment or cure for individuals affected with this type of syndrome, though some of the abnormal physical features may be surgically correctable. [en.wikipedia.org]
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]
There is no specific treatment or cure for individuals affected with this type of syndrome, though some of the abnormal physical features may be surgically correctable. [3] References Rosselli, D.; Gulienetti, R. (1961). [ipfs.io]
There is no specific treatment or cure as of yet for individuals affected with this type of syndrome, though surgical correction of any of the deformities is a possibility. References Wikimedia Foundation. 2010. [enacademic.com]
Prognosis
Diagnosis - Zlotogora syndrome Prognosis - Zlotogora syndrome The long-term prognosis for people with this syndrome is largely unknown because there are so few cases. [checkorphan.org]
Prognosis This syndrome is rare and has only recently been delineated, so it is difficult to find any reliable information on long-term outlook. Patients who are adequately managed seem to do well in the medium term. [patient.co.uk]
PMID: 28741088 Prognosis Fujiwara Y, Ito K, Takamura A, Nagata K J Med Case Rep 2018 Oct 8;12(1):295. doi: 10.1186/s13256-018-1814-9. PMID: 30293532 Free PMC Article Nakatoh S J Orthop Sci 2018 Sep;23(5):819-824. [ncbi.nlm.nih.gov]
Etiology
Etiology Zlotogora-Ogur syndrome is caused by mutations in the gene PVRL1 (11q23-q24) which encodes nectin-1, the principal receptor used by alpha-herpesviruses to mediate entry into human cells. [orpha.net]
The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]
Epidemiology
Summary Epidemiology The prevalence is unknown but to date, less than 50 cases have been described in the literature. The disorder is frequent on Margarita Island due to a founder effect. [orpha.net]
The gene locus for AEC syndrome and Hay-Wells syndrome is on the long arm of chromosome 3. [ 5 ] Epidemiology These are exceedingly rare conditions with only a handful of reported cases. [patient.co.uk]
You can help by adding to it. ( May 2017 ) Epidemiology [ edit ] The diagnosis of PPS has been made in several ethnic groups, including Caucasian, Japanese, and sub-Saharan African. Males and females are equally likely to suffer from the syndrome. [wikivividly.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]
Prevention
Symptoms - Zlotogora syndrome Causes - Zlotogora syndrome Prevention - Zlotogora syndrome Because Zlotogora-Ogur syndrome i s an inherited condition, there is currently no known way to prevent the disease. [checkorphan.org]
Prevention Prenatal diagnosis may be able to help some families who have already had an affected child. [patient.co.uk]
Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [thesourcenatural.com]