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716 Possible Causes for Small Palpebral Fissures

  • Pseudoaminopterin Syndrome

    […] jaw Small lower jaw [ more ] 0000347 Muscular hypotonia Low or weak muscle tone 0001252 Narrow forehead Decreased width of the forehead 0000341 Narrow palpebral fissure Small[rarediseases.info.nih.gov] It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathiacleft lip[malacards.org] The fetal alcohol syndrome is characterized by growth deficiency of prenatal onset, mild to moderate microcephaly, short palpebral fissures, mental deficiency, and fine motor[rrnursingschool.biz]

  • Blepharophimosis

    Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures (blepharophimosis), drooping[ncbi.nlm.nih.gov] All patients of the two families demonstrated typical features of BPES type II, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus without female[ncbi.nlm.nih.gov] In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge[en.wikipedia.org]

  • Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome

    Definition A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the[uniprot.org] Patients experience a combination of congenital eyelid anomalies: small palpebral fissures, ptosis, telecanthus, and epicanthus inversus.[bmcmedgenet.biomedcentral.com] The father also has small palpebral fissures, ptosis of the eyelids, and epicanthus inversus.[asean-endocrinejournal.org]

  • Fetal Alcohol Syndrome

    The most consistently found features are pre- and postnatal growth retardation, small palpebral fissures and mental deficiency.[ncbi.nlm.nih.gov] Ocular signs are prevalent, including small palpebral fissure, microcornea, strabismus, myopia, astigmatism, and optic nerve hypoplasia.[ncbi.nlm.nih.gov] The first two analyses showed that the FAS face is characterized by small palpebral fissures, a thin upper lip, and midfacial hypoplasia.[ncbi.nlm.nih.gov]

  • Trisomy 9

    Except for deeply-set eyes and small palpebral fissures with slight telecanthus, our ocular findings have not previously been described in mosaic trisomy 9.[ncbi.nlm.nih.gov] Physical features included: scaphocephaly, frontal atrophy with deep forehead creases, microphthalmia with small palpebral fissures, broad nasal bridge, short philtrum, small[ashg.org] The ocular findings in mosaic trisomy 9 have included deeply-set eyes, small, slightly mongoloid palpebral fissures, telecanthus or hypertelorism, microphthalmos, alacrimia[healio.com]

  • RAPADILINO Syndrome

    The 4 year old has talipes equinovarus, bilateral radial reduction defects, small palpebral fissures, small mouth, and skin changes.[digitalcommons.hsc.unt.edu] Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears[humpath.com] Symptoms and Signs Patients with Rapadilino syndrome exhibit craniofacial anomalies, more commonly in the form of a long face, long slender nose, narrow palpebral fissures[dianamossop.com]

  • Kaufman Oculocerebrofacial Syndrome

    […] head, narrow face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin[signssymptoms.org] palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags.[signssymptoms.org] […] kaufman oculocerebrofacial syndrome is an autosomal recessive disorder. this rare genetic medical condition is characterized by some abnormal looking facial features including small[signssymptoms.org]

  • Monosomy 21q

    palpebral fissures, prominent nasal bridge with a broad nose, and large ears.[orpha.net] The clinical examination revealed a coarse facies with nuchal low set hair, frontal alopecia, prominent forehead, small palpebral fissures, prominent nose, prognathism and[molecularcytogenetics.biomedcentral.com] […] common clinical features include intrauterine and postnatal growth retardation, microcephaly, prominent occiput, and facial dysmorphism characterized by up or down-slanted small[orpha.net]

  • Gorlin-Chaudhry-Moss Syndrome

    Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly[ncbi.nlm.nih.gov] (microphthalmia) with narrowed openings (narrowed palpebral fissures).[ghr.nlm.nih.gov] Affected individuals may also have farsightedness (hyperopia) and dental problems such as small teeth (microdontia) or fewer teeth than normal (hypodontia).[ghr.nlm.nih.gov]

  • Freeman-Sheldon Syndrome

    Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus[ncbi.nlm.nih.gov] Article / Publication Details First-Page Preview Abstract Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis[karger.com] fissures, small mouth, and a prominent chin.[ncbi.nlm.nih.gov]

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