Create issue ticket

108 Possible Causes for Mongoloid Slant

  • Kaufman Oculocerebrofacial Syndrome

    Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[] slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible. * [19461] References: Kaufman[] Upslanted palpebral fissure Mongoloid slant, Upward slanting palpebral fissures, Upslanting palpebral fissures, Upward slanting of the opening between the eyelids, Upward[]

  • Progeroid Facial Appearance with Hand Anomalies

    slant frontal bossing lips, modified appearance lower lip, thin mouth, modified appearance mouth, small, microstomia nose, modified appearance nose, philtrum short nose,[] […] cranial changes including microcephaly facies, senile, folded progeroid facies, premature aging, pinched forehead-orbital region, changes eyelids, fissures, upslanting, mongoloid[]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    Peroxisomes are involved in various metabolic reactions. Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner. We present a nine-year-old boy with skeletal abnormalities and dysmorphic[…][]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Characterization of Cholesterol Crystalline Domains in Model and Biological Membranes Using XRay Diffraction 231 Role of LipidMediated Effects in β2Adrenergic Receptor Dimerization 246 Effect of Temperature on the Phase Behaviour of Fully Saturated DAPC Lipid Bilayer A Comparative Molecular Dynamics Simulation Study[…][]

  • Carpenter-Waziri Syndrome

    Disease definition Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term). Summary Epidemiology Prevalence is unknown[…][]

  • Autosomal Dominant Spondylocostal Dysostosis

    slanting palpebral fissures Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy[] Anteverted nares / nostrils - Broad nasal root - Lordosis - Prominent occiput / occipital bossing - Short neck - Short rib cage / thorax - Upslanted palpebral fissures / mongoloid[]

  • Pentasomy X

    Our case had thenar atrophy, postnatal growth deficiency, developmental delay, mongoloid slant, microcephaly, ear anomalies, micrognathia and congenital heart disease.[] Low birth weight Failure to thrive Small head circumference Short stature Mental or psychomotor retardation Flat nasal bridge Mongoloid slant of palpebral fissures Ears abnormal[]

  • Acroosteolysis Dominant Type

    slanting palpebral fissures - Facial dysmorphism - Hypertelorism - Long philtrum - Micrognathia / retrognathia / micrognathism / retrognathism - Osteolysis / osteoclasia[] Very frequent - Alveolysis / paraodontitis - Autosomal dominant inheritance - Distal phalangeal bones of toes hypoplasia / absence - Downslanted palpebral fissures / anti-mongoloid[]

  • Saethre-Chotzen Syndrome

    We report a 2-year-old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti-mongoloid slant of the palpebral[] slant of palpebral fissures, and brachydactyly.[] […] occurred prior to the detection of this particular mutation of FGFR3, and was due to an overlap of some phenotypic features such as hypertelorism, mild eyelid ptosis, anti-mongoloid[]

  • XXXXY Syndrome

    slant, flattened nose, hypoplastic external male genitalia, clinodactyly, radioulnar synostoses, coxa vara, genu varum, pes planus Treatment None, testosterone may improve[] […] with the 49, XXXXY syndrome present with low birth weight, muscle hypotonicity, profound mental and growth retardation, malformed ears, a short neck, hypertelorism with a mongoloid[]

Further symptoms