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12 Possible Causes for Antimongoloid Slant, Buccal Frenulae, Polydactyly

  • Pallister W Syndrome

    Antimongoloid eye slant: Antimongoloid eye slant is listed as an alternate name or description for symptom:. Antimongoloid palpebral fissure in children.[exildau.ga] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com]

  • Gorlin Psaume Syndrome

    Ocular: Hypertelorism; displaced medial and lateral canthi; antimongoloid slanting of palpebral fissures; exotropia; see-saw winking.[esanatos.com] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] […] of the left hand, wide halluces Postaxial polydactyly of both hands, preaxial polydactyly of both feet Postaxial polydactyly of both hands, bifid halluces, bifid right fifth[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    slant, mild exophthalmos, retinal pigment epithelial defects, pale disks, nystagmus, microcornea, and aniridia.'[healio.com] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov]

  • X-Linked Mandibulofacial Dysostosis

    frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] Hair-Mental Retardation-Seizures Syndrome Microdontia-Microcephaly-Short Stature Syndrome Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly[neo-genetics.com] slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia.[reference.md]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    slant of the palpebral fissures, canthal dystopia, atresia of lower lacrimal puncta and canaliculus, ectropion, orbital and limbal dermoids, and high astigmatism in severe[eyewiki.aao.org] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] Short limb polydactyly syndromes This group of lethal disorders is characterized by short limbs, narrow thorax and postaxial polydactyly.[sonoworld.com]

  • Saethre-Chotzen Syndrome

    frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented.[ncbi.nlm.nih.gov] The features of the syndrome include: turriplagiocephaly with a cranial circumference of 52 cm, facial asymmetry, low hairline, proptosis, antimongoloid slanting of palpebral[ncbi.nlm.nih.gov]

  • Familial Scaphocephaly Syndrome

    This allows correction of the antimongoloid slant by superior fixation of the lateral canthal ligaments.[emedicine.medscape.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trisomy 13 syndrome holoprosencephaly due to an extra chromosome 13, in which central nervous system defects are associated with mental retardation, cleft lip and palate, polydactyly[medical-dictionary.thefreedictionary.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    ; aborted fetus of 7120324_mother Edit 21 3976719_1 46, XX der(7)t(7;9)(p22;p13) mat developmental & growth retardation, antimongoloid slant of palpebral fissures, asymmetric[chr7.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org] […] type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1 Short-rib thoracic dysplasia type 7 with or without polydactyly[centogene.com]

  • Congenital Velopharyngeal Incompetence

    This causes an antimongoloid slant to the palpebral fissures of the eye.[plasticsurgerykey.com] frenula buccolingual relationship \bŭk#o-lı̆ng#gwal rı̆-la#shun-shı̆p\: any po- sition of reference relative to the tongue and cheeks buccoversion \bŭk#ko-vûr#shun[docsity.com] Digital: Asymmetric shortening of digits with clinodactyly, syndactyly, and/or brachydactyly of hands and unilateral polydactyly of feet.[plasticsurgerykey.com]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    Lateral clefts of the palate are produced by bilateral grooves arising from the maxillary buccal frenula.[healio.com] Symptoms - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Causes - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied.[checkorphan.org] Brachyphalangy, polydactyly and tibial aplasia/hypoplasia is a rare autosomal dominant disorder.[ncbi.nlm.nih.gov]

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