Disease definition Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. [orpha.net]

Introduction Zlotogora-Ogur syndrome is an ectodermal dysplasia disorder portrayed by features such as hair, skin as well as by teeth irregularity, facial dysmorphism with congenital fissure and sense of taste, cutaneous syndactyly and intellectual disability [curerator.com]

[…] phenotype associations Type disease Description Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability [amp.pharm.mssm.edu]

intolerance - Lordosis - Seizures / epilepsy / absences / spasms / status epilepticus - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis [csbg.cnb.csic.es]

Everted lower lip vermilion Prominent supraorbital ridges Immunodeficiency X-linked recessive inheritance Generalized hyperpigmentation Submucous cleft hard palate Soft skin Heterogeneous Clinodactyly of the 5th finger Respiratory distress Rhinitis Heat [mendelian.co]

Abnormalities Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy Mal De Naxos Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities NXD [ukgtn.nhs.uk]

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 [orpha.net]

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

teeth (delayed eruption, microdontia/hypodontia, and anodontia in adults), facial dysmophism (protruding and malformed ears, micrognathia, bilateral cleft lip and palate), cutaneous syndactyly (fingers and toes) and transverse crease on the palms. [malacards.org]

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 [orpha.net]

Rosselli-Gulienetti Syndrome A syndrome of anhidrosis-hypotrichosis, pili torti, microdontia, nail dysplasia, cleft lip/palate, urogenital abnormalities, and mental retardation. [neo-genetics.com]

[…] 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, microdontia [malacards.org]

anomaly - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Lordosis - Seizures / epilepsy / absences / spasms / status epilepticus - Ureterocele / cystic dilation [csbg.cnb.csic.es]

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 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 Toe syndactyly Fused toes Webbed toes [ more [rarediseases.info.nih.gov]

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 - Broad nasal [csbg.cnb.csic.es]

Showing of 52 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 Toe syndactyly Fused toes Webbed toes [ more [rarediseases.info.nih.gov]

[…] 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. [orpha.net]

[…] 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]

[…] 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]

High forehead Hypoplastic-absent sebaceous glands Microcephaly Aplasia/Hypoplastia of the eccrine sweat glands Scoliosis Orthokeratosis Patchy alopecia Coarse hair Selective tooth agenesis Dysphonia Intellectual disability, mild Non-midline cleft lip [mendelian.co]

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 [orpha.net]

The disorder is frequent on Margarita Island 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 [malacards.org]

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]

[…] syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption [mendelian.co]

[…] syndactyly and, in some cases, intellectual disability Zlotogora 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 [dovemed.com]

[…] 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]

sweating / thermoregulation disorder / heat intolerance - Lordosis - Seizures / epilepsy / absences / spasms / status epilepticus - Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis [csbg.cnb.csic.es]

sweating Sweating, decreased [ more ] 0000966 Palmoplantar hyperkeratosis Thickening of the outer layer of the skin of the palms and soles 0000972 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Abnormality [rarediseases.info.nih.gov]

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 bridge [ [rarediseases.info.nih.gov]

Disease Type of connection Ectodermal dysplasia - syndactyly syndrome Familial Alzheimer-like prion disease Fatal familial insomnia Gerstmann-Straussler-Scheinker syndrome Huntington disease-like 1 Inherited Creutzfeldt-Jakob disease Synonym(s): - CLPED1 [csbg.cnb.csic.es]

[…] receptor/CD3 complex); Immunodeficiency (X-Iinked, with hyper-IgM); Immunodeficiency due to defect in CD3-gamma; Immunodeficiency-centromeric instabilityfacial anomalies syndrome; Incontinentia pigmenti; Insensitivity to pain (congenital, with anhidrosis); Insomnia [ic.gc.ca]

CD3 complex); Immunodeficiency (X-linked, with hyper-lgM); Immunodeficiency due to defect in CD3-gamma; Immunodeficiency-centromeric i nstabi I ityfaci al anomalies syndrome; Incontinentia pigmenti; Insensitivity to pain (congenital, with anhidrosis); Insomnia [lens.org]

[…] 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]

[…] 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]