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91 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[] slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds[]

  • 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[]

  • Down Syndrome

    In addition to ocular features related to DS such as epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38–85%)(Fig. 4 ),[]

  • 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[…][]

  • Wolcott-Rallison Syndrome

    Abstract In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple epiphyseal dysplasia . We have observed a brother and sister with the same disorder. The chondro-osseous lesions are those of a spondylo-epiphyseal dysplasia . The diabetes mellitus is[…][]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    Abstract Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic peroxisome biogenesis disorder with a reported incidence of 1 in 100 000 live births. The 3 genetic subtypes of RCDP are acquired by an autosomal recessive inheritance pattern. RCDP type 1 accounts for greater than 90% of all aggregate cases.[…][]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Brendan Lee, MD, PhD, is Professor and Chair in the Department of Molecular and Human Genetics at Baylor College of Medicine. As a pediatrician and geneticist, Dr. Lee studies structural birth defects and inborn errors of metabolism. In the area of metabolic disease, he is developing new treatments for maple syrup[…][]

  • Renpenning Syndrome 1

    From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males Golabi-Ito-Hall syndrome Sutherland-Haan X-linked[…][]

  • Miller Dieker Syndrome

    Miller-Dieker syndrome (MDS) is a contiguous gene deletion syndrome in which almost all patients present de novo 17p13.3 deletions. We report on a male infant with MDS and an unusual unbalanced translocation involving chromosomes Y and 17 that resulted in a large 5.5-Mb 17pterp13.2 deletion and a karyotype with 45[…][]

  • X-Linked Intellectual Disability Type Nascimento

    Abstract X-linked intellectual disability type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped eyes, depressed nasal bridge, prominent columella, hypoplastic alae nasi, and macrostomia),[…][]

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