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356 Possible Causes for Upslanting Palpebral Fissures

  • Kaufman Oculocerebrofacial Syndrome

    palpebral fissures, depressed nasal bridge. and anteverted nares.[ncbi.nlm.nih.gov] palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress[orpha.net] palpebral fissures / mongoloid slanting palpebral fissures Frequent - Absent / decreased / thin eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial[csbg.cnb.csic.es]

  • Wolcott-Rallison Syndrome

    Libyan J Med. 2013 Jan;8(1):21137. doi: 10.3402/ljm.v8i0.21137. Author information 1 a Endocrine and Diabetes Unit , Maternity and Children Hospital , Al-Madinah , Saudi Arabia. Abstract Background Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 gene mutations and characterized by permanent neonatal[…][ncbi.nlm.nih.gov]

  • Down Syndrome

    Typical facies with upslanting palpebral fissures is the characteristic feature of this syndrome (hence the offensive designations "mongoloid idiocy" and "mongolism").[icd9data.com] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] 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 ),[doi.org]

  • Renpenning Syndrome 1

    The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.[malacards.org] Characteristic craniofacial features include long triangular faces with upslanting palpebral fissures, half-depilated eyebrows, large ridged or bulbous nose with overhanging[orpha.net] Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous[malacards.org]

  • Zellweger Syndrome

    palpebral fissures, epicanthal folds, and broad nasal bridge), profound hypotonia and seizures.[orpha.net] Infants with Zellweger syndrome present with flattened facies, large anterior fontanel, split sutures, a prominent high forehead, a flattened occiput, upslanting palpebral[ela-asso.com] Typical Facies epicanthal folds high forehead hypoplastic supraorital ridges upslanting palpebral fissures 2.[pedbase.org]

  • Blepharofacioskeletal Syndrome

    Upslanted palpebral fissure MedGen UID: 98390 • Concept ID: C0423109 • Finding The palpebral fissure inclination is more than two standard deviations above the mean for age[ncbi.nlm.nih.gov] Other anomalies are blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of 3rd and 4th fingers as well as 2nd and 3rd toes.[researchgate.net]

  • Miller Dieker Syndrome

    palpebral fissures, protuberant upper lip, thin vermilion border of upper lip, and micrognathia (Figure 47.1 [B]).[pediatricneuro.com] Dysmorphic features may include everted lips, deep-set eyes, upslanting palpebral fissures, hypertelorism, synophris, prominent philtrum and hypotonic facies.[epilepsydiagnosis.org] […] facial features: microcephaly with bitemporal narrowing, vertical ridging and furrowing in the central forehead (especially when crying), small nose with antiverted nostrils, upslanting[pediatricneuro.com]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    palpebral fissures curly eyebrows Skeletal: small epiphyses spondyloepiphyseal dysplasia mild joint contractures generalized epiphyseal ossification delay Respiratory Lung[malacards.org] […] brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease of fifth finger more Head And Neck Eyes: blepharophimosis curly eyelashes upslanting[malacards.org]

  • Pallister-Killian Syndrome

    palpebral fissures, hypertelorism, flat and broad nasal bridge, short nose with upturned nares, large mouth with downturned corners and prominent upper lip.[orpha.net] Craniofacial manifestations include a coarse'' face with flat profile, high forehead with temporo-frontal balding, sparseness of eyebrows and lashes, shallow supraorbital ridges, upslanting[orpha.net]

  • Trigonocephaly

    The girl was the first-born child of consanguineous parents and had trigonocephaly, apparent hypertelorism, upslanted palpebral fissures, strabismus, small nose with broad[ncbi.nlm.nih.gov] The proband was initially diagnosed with Opitz trigonocephaly syndrome on the basis of metopic craniosynostosis, upslanting palpebral fissures, high arched palate, redundant[ncbi.nlm.nih.gov] Both children showed the pattern of abnormal findings characteristic of this syndrome, including trigonocephaly, upslanted palpebral fissures, inner epicanthic folds, broad[ncbi.nlm.nih.gov]

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