Onychodystrophy may be present. [orpha.net]

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]

Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails. [uniprot.org]

• Single Transverse Palmar Crease

  transverse palmar creases Carious teeth Downslanted palpebral fissures Dystrophic fingernails Dystrophic toenail Highly arched eyebrow Hypogonadism Hypoplasia of the zygomatic bone Intellectual disability Micrognathia Midface retrusion Neurological speech [dovemed.com]

  transverse palmar creases 0007598 Carious teeth Dental cavities Tooth cavities Tooth decay [ more ] 0000670 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Dystrophic fingernails Poor fingernail formation 0008391 [rarediseases.info.nih.gov]

• 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]

• Abnormal Teeth

  Symptoms The symptoms are given below: Twisted hair Hypohidrosis Dry skin Palmoplantar keratoderma Abnormal teeth Facial dysmorphism Microdontia Anodontia Cutaneous syndactyly Onychodystrophy Deafness Nipple anomalies Hypoplastic lacrimal puncta Genitourinary [curerator.com]

  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/ [findzebra.com]

  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]

  Children present with noticeably few and twisted hairs, dry skin, abnormal teeth, webbed fingers, and facial abnormalities like cleft lip. Zlotogora-Ogur may include intellectual disability or deafness as well. [diseaseinfosearch.org]

• Microdontia

  Symptoms The symptoms are given below: Twisted hair Hypohidrosis Dry skin Palmoplantar keratoderma Abnormal teeth Facial dysmorphism Microdontia Anodontia Cutaneous syndactyly Onychodystrophy Deafness Nipple anomalies Hypoplastic lacrimal puncta Genitourinary [curerator.com]

  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/ [findzebra.com]

  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]

  Clinical aspects Facial features included cleft lip with or without cleft palate (72% of patients), maxillary hypoplasia, mild malar hypoplasia, partial anodontia, microdontia, and choanal atresia. [accessanesthesiology.mhmedical.com]

• Delayed Dentition

  |ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination Related symptoms: Intellectual disability Seizures Global developmental delay Short stature Hearing impairment SOURCES: ORPHANET OMIM MENDELIAN More info about HYPOMYELINATING [mendelian.co]

• Macrotia

  Macrotia Toe syndactyly Frequently present symptoms in 30-79% of the cases: Abnormality of dental morphology Alopecia Bilateral single transverse palmar creases Carious teeth Downslanted palpebral fissures Dystrophic fingernails Dystrophic toenail Highly [dovemed.com]

  Showing of 52 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Bilateral cleft lip and palate Right and left cleft lip and palate 0002744 Ectodermal dysplasia 0000968 Finger syndactyly 0006101 Macrotia Large ears 0000400 [rarediseases.info.nih.gov]

• Blepharitis

  […] cardiovascular system morphology Atrial septal defect Cyclopia Cryptorchidism Pyriform aperture stenosis Midnasal stenosis Prominent median palatal raphe Single naris Torus palatinus Hypothalamic hamartoma Semilobar holoprosencephaly Lobar holoprosencephaly Blepharitis [mendelian.co]

• Lordosis

  […] below: Twisted hair Hypohidrosis Dry skin Palmoplantar keratoderma Abnormal teeth Facial dysmorphism Microdontia Anodontia Cutaneous syndactyly Onychodystrophy Deafness Nipple anomalies Hypoplastic lacrimal puncta Genitourinary abnormalities Lumbar lordosis [curerator.com]

  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. [findzebra.com]

  […] oligodontia / hypodontia - Cryptophthalmia / ankyloblepharon / synblepharon - EEG anomalies - Enamel anomaly - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Lordosis [csbg.cnb.csic.es]

• 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]

  Dysphagia Rare Symptoms - Less than 30% cases Recurrent respiratory infections Malar flattening Downslanted palpebral fissures Syndactyly Peripheral demyelination Micrognathia Postural tremor Hypertonia CNS hypomyelination Drooling Midface retrusion Alopecia [mendelian.co]

• Eruptions

  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/ [findzebra.com]

  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]

  […] due to a founder effect.Clinical descriptionZlotogora-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 [malacards.org]

• 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]

• Skin Fissure

  […] dysplasia-cleft/lip palate - Zlotogora-Zilberman-Tenenbaum syndrome Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare skin [csbg.cnb.csic.es]

  Epidermal acanthosis Inflammatory abnormality of the skin Thickened skin Skin ulcer Opacification of the corneal stroma Osteolysis Neoplasm of the skin Melanoma Trichorrhexis nodosa Mutism Squamous cell carcinoma Curly hair Parakeratosis Neoplasm of [mendelian.co]

• Palmoplantar Keratosis

  Syndrome PPKCA1 0 104100 Genetic Test Registry Palmoplantar Keratoderma, Epidermolytic Hyperkeratosis, Localized Epidermolytic Keratoderma, Epidermolytic Palmoplantar Keratosis Of Greither Keratosis Palmaris Et Plantaris Familiaris Palmoplantar Keratoderma [ukgtn.nhs.uk]

  Keratosis palmoplantaris striata I; Keratosis palmoplantaris striata II; Ketoacidosis due to SCOT deficiency; Keutel syndrome; Klippel- Trenaurnay syndrome; Kniest dysplasia; Kostmann neutropenia; Krabbe disease; Kurzripp-Polydaktylie syndrome; Lacticacidemia [ic.gc.ca]

• 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]

• Broad Nasal Bridge

  bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal [rarediseases.info.nih.gov]

• Global Developmental Delay

  |ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination Related symptoms: Intellectual disability Seizures Global developmental delay Short stature Hearing impairment SOURCES: ORPHANET OMIM MENDELIAN More info about HYPOMYELINATING [mendelian.co]

  developmental delay 0001263 Microdontia Decreased width of tooth 0000691 Nail dysplasia Atypical nail growth 0002164 Progressive hypotrichosis 0002296 Psychomotor retardation 0025356 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes [rarediseases.info.nih.gov]

• Echolalia

  […] micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Multiple caries - Pili torti - Prominent / bat ears - Repeat respiratory infections - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia / echolalia [csbg.cnb.csic.es]

  Phonic tics include sniffling, throat clearing, blowing, coughing, echolalia, or coprolalia. Males are affected about 3 times more often than females, and onset usually occurs between 3 and 8 years of age. [mendelian.co]

• Dysphasia

  […] retrognathia / micrognathism / retrognathism - Mid-facial hypoplasia / short / small midface - Multiple caries - Pili torti - Prominent / bat ears - Repeat respiratory infections - Simian crease / transverse / unique palmar crease - Speech troubles / aphasia / dysphasia [csbg.cnb.csic.es]

  Rigidity Respiratory failure Osteoporosis Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Curly eyelashes Eclabion Wide nasal base Poor speech Abnormality of the testis Broad philtrum Abnormal hair pattern Echolalia Aphasia Dysphasia [mendelian.co]

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]

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

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]

If symptoms are managed and complications prevented, patients should enjoy long, healthy lives Treatment - Zlotogora syndrome There is no cure but treatment of Zlotogora syndrome is directed toward the specific symptoms that are apparent in each affected [checkorphan.org]

(August 2017) 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] References[edit] ^ "OMIM Entry - % 225000 - ROSSELLI-GULIENETTI [en.wikipedia.org]

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]

[…] 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]

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

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]