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Rosselli-Gulienetti Syndrome

Rosselli Gulienetti Syndrome


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]
Turkish
  • Castilian) Pronunciation Spanish (Castilian) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Spain) Pronunciation Spanish (Mexico) Pronunciation Swedish Pronunciation Swedish Pronunciation Turkish[pronouncekiwi.com]
  • Kuşadası, Kütahya, Lara, Mahmutlar, Manavgat, Manisa, Marmaris, Mersin, Muğla, Nevşehir, Olympos, Palandöken, Pamukkale, Prince Islands, Samsun, Sapanca, Sarigerme, Sarıkamış, Selimiye, Selçuk, Side, Tarsus, Tekirova, Trabzon, Troy, Turgutlu, Turgutreis, Turkish[maria-online.com]
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]
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]
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]
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]
  • 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.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]
  • The prognosis is poor, with all infants dying within the first few months of life.[new.apexaustralia.com]

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 .[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]
Sex distribution
Age distribution

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.[coneshealthfoods.com]

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