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131 Possible Causes for Mongoloid Slant, Overfolded Superior Helix

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[] 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[]

  • Camptodactyly Syndrome Guadalajara Type 1

    Disease definition Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Summary Epidemiology To date only eight cases have been reported in the literature. Clinical description Dysmorphic features include flat face,[…][]

  • Wolcott-Rallison Syndrome

    Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-onset diabetes, spondyloepiphyseal dysplasia, tendency to skeletal fractures secondary to osteopenia, and growth retardation. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are[…][]

    Missing: Overfolded Superior Helix
  • 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 ),[]

    Missing: Overfolded Superior Helix
  • Alagille Syndrome

    Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight[]

    Missing: Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[] slanting palpebral fissures Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cataract / lens opacification - Cleft lip and palate - Lip pits / fistulae - Megaureter[] […] divided nasal tip, depressed nasal bridge, short nasal septum, cleft lip and palate, lip pits, dental abnormalities), the ears (microtic, low-set and/or posteriorly rotated, overfolded[]

  • Pitt-Hopkins Syndrome

    Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the[…][]

    Missing: Overfolded Superior Helix
  • Atkin Syndrome

    Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers. Although these patients' phenotypes showed considerable overlap with the Coffin-Lowry and the Atkin-Flaitz syndromes, their overall picture makes[…][]

    Missing: Overfolded Superior Helix
  • Blepharofacioskeletal Syndrome

    Symptoms of Blepharofacioskeletal syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of connective tissue Hernia of the abdominal wall Abnormality of head or neck Bifid uvula Blepharophimosis Broad forehead Cleft palate Epicanthus High anterior hairline Hypoplasia of the zygomatic[…][]

    Missing: Overfolded Superior Helix
  • Zellweger Syndrome

    From Wikidata Jump to navigation Jump to search congenital disorder of nervous system cerebrohepatorenal syndrome congenital iron overload peroxisome biogenesis disorder ZS edit English Zellweger syndrome congenital disorder of nervous system cerebrohepatorenal syndrome congenital iron overload peroxisome[…][]

    Missing: Overfolded Superior Helix

Further symptoms