[…] less Abstract: We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. [typeset.io]

Abstract We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft lip/palate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. [brain.unboundmedicine.com]

If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. [dovemed.com]

Richieri-Costa Laboratbrio de Genktica Humana, Hospital de Pesquisa e Reabilitqcio de LesLies Lzibio-Palatais, USP, Bauru, SP, Brazil We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia [docksci.com]

Onychodystrophy may be present. [orpha.net]

• Nail Abnormality

  Disorder, Nonsyndromic Congenital, 10 Claw-Shaped Nails Onychauxis, Hyponychia, And Onycholysis NDNC10 614157 Genetic Test Registry Naxos Disease Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities Keratosis Palmoplantaris [ukgtn.nhs.uk]

• Alopecia

  […] uvula - Long / large ear - Syndactyly of fingers / interdigital palm - Syndactyly of toes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormally placed nipples - Absent / decreased / thin eyebrows - Alopecia [csbg.cnb.csic.es]

  The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). [moh-it.pure.elsevier.com]

  0000431 Wide nasal bridge Frequent (79-30%) HP:0000494 Downslanted palpebral fissures Frequent (79-30%) HP:0000664 Synophrys Frequent (79-30%) HP:0000670 Carious teeth Frequent (79-30%) HP:0001249 Intellectual disability Frequent (79-30%) HP:0001596 Alopecia [pubcasefinder.dbcls.jp]

  […] eyelashes Very frequently present symptoms in 80-99% of the cases: Bilateral cleft lip and palate Ectodermal dysplasia Finger syndactyly Macrotia Macrotia Toe syndactyly Frequently present symptoms in 30-79% of the cases: Abnormality of dental morphology Alopecia [dovemed.com]

• Eczema

  […] agenesis Dysphonia Intellectual disability, mild Non-midline cleft lip Microphthalmia Abnormality of the voice Thick vermilion border Skin erosion Chronic sinusitis Trismus Short philtrum Hypotrichosis Pustule Absent eyelashes Iris coloboma Coloboma Eczema [mendelian.co]

  urticaria (hives), eosinophilia, respiratory, allergies to insect stings, skin allergies (leading to and including various rashes, such as eczema, hives (urticaria) and (contact) dermatitis), food allergies, and allergies to medicine. [lens.org]

  […] all 7 of the original patients described by Hay and Wells were noted to have varying degrees of alopecia, only 2 were described with other forms of scalp involvement: one with “recurrent bacterial infections” 1 (p280) and the other with “cradle cap eczema [jamanetwork.com]

• Kinky Hair

  hair and eyebrows, abnormal teeth, brittle nails, hypohidrosis, dry skin with palmar and plantar hyperkeratosis, accessory nipples, and syndactyly of fingers 2-3 (Fig. 4). [docksci.com]

  hair disease Kinky hair syndrome Kjellin syndrome Kjer disease Kleeblattschaedel syndrome Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to a point mutation Kleefstra syndrome due [csbg.cnb.csic.es]

• Absent Nails

  Additional symptoms may include fused eyelids, absent nails, delayed bone growth, dry skin and so on. [wikidoc.org]

  Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. [en.wikipedia.org]

  Symptoms of RGS include reduced or absent ability to sweat, facial abnormalities, and defects in the hair, teeth, nails, fingers, toes, and urinary tract. [ermasnutritioncenter.com]

• Plantar Hyperkeratosis

  hyperkeratosis, accessory nipples, and syndactyly of fingers 2-3 (Fig. 4). [docksci.com]

  hyperkeratosis Abnormal oral mucosa morphology Abnormality of the gingiva Palmoplantar hyperhidrosis Hidrotic ectodermal dysplasia Autoamputation Foot pain Hepatomegaly Agenesis of premolar Gait disturbance Circumungual hyperkeratosis Skin fissure Alopecia [mendelian.co]

• Low Self-Esteem

  The complications of Zlotogora Syndrome may include: Severe intellectual disability Problems with chewing food due to dental abnormalities Low self esteem due to physical appearance Complications may occur with or without treatment, and in some cases, [dovemed.com]

• Neurologic Manifestation

  Diseases ← Nervous System Diseases ← Neurologic Manifestations ← Neurobehavioral Manifestations ← Intellectual Disability ← Zlotogora-Ogur syndrome 11. [ctdbase.org]

[…] due to treatment also. [dovemed.com]

Treatment[edit] 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.[4] Epidemiology[edit] About 35 cases have been described in medical [en.wikipedia.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. [diseaseinfosearch.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]

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.info]

The long-term prognosis for people with RGS is largely unknown because there are so few cases. If symptoms are managed and complications prevented, people with RGS should enjoy long, healthy lives. [ermasnutritioncenter.com]

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. [findzebra.com]

[…] palate with ankyloglossia (CPX) ( TBX22 mutations) (MIM.303400) syndromic cleft lip/palate cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) (MIM.225000) Margarita Island ectodermal dysplasia (MIM.225060) otopalatodigital syndrome type 2 (OTD2) Etiologies [humpath.com]

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. [findzebra.com]

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]

Zlotogora-Zilberman-Tenenbaum syndrome Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

In this article Genetics Epidemiology Presentation Differential diagnosis Investigations Associated diseases Management Complications Prognosis Prevention Bowen-Armstrong Syndrome In this article Genetics Epidemiology Presentation Differential diagnosis [patient.info]

[…] analysis using the same p63 antibody (which recognizes all isoforms of p63) demonstrated similar patterns of nuclear localization of p63 in both control and patient tissue samples, indicating that aberrant p63 expression likely does not contribute to the pathophysiologic [jamanetwork.com]

How can Zlotogora Syndrome be Prevented? Currently, Zlotogora Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

[…] and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy Quantifi cation of taurodontism: interests in the early diagnosis of Revista Odontológica Mexicana 2015;19 [semanticscholar.org]

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 General : Because Rosselli-Gulienetti syndrome (RGS) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of RGS. [ermasnutritioncenter.com]

Prevention Prenatal diagnosis may be able to help some families who have already had an affected child. [patient.info]