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74 Possible Causes for Absent or Abnormal Eyelids

  • Congenital Upper Palpebral Retraction

    The mean patient age was 25 years; lower eyelid laxity was absent; patients had not received any prior ophthalmological surgery; and no abnormal findings were observed in[ekjo.org] Collin et al. [ 7 ] reported four cases with lower eyelid retraction affecting one eye, and Mee and McNab [ 9 ] reported two cases of lower eyelid retraction with abnormal[ekjo.org] In the present study, we report seven cases of congenital lower eyelid retraction.[ekjo.org]

  • Neu-Laxova Syndrome Type 2

    A kidney may be absent or underdeveloped. Skeletal abnormalities include clubfeet and contracted joints occur frequently in infants.[accessanesthesiology.mhmedical.com] In addition, the eyelids are underdeveloped (hypoplastic) and turned outward (ectropion), causing them to appear absent.[rarediseases.org] Potter Syndrome : Characterized by an excess of skin dehydrated looking, a flattened face with a “parrot-beak" nose, eyelid anomalies, micrognathism, and low-set ears.[accessanesthesiology.mhmedical.com]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    Enamel abnormality [ more ] 0000682 Absent eyebrow Failure of development of eyebrows 0002223 Arthrogryposis multiplex congenita 0002804 Atypical scarring of skin Atypical[rarediseases.info.nih.gov] […] scarring 0000987 Autosomal recessive inheritance 0000007 Blepharophimosis Narrow opening between the eyelids 0000581 Brachycephaly Short and broad skull 0000248 Camptodactyly[rarediseases.info.nih.gov] […] people who have these symptoms is not available through HPO Abnormal facial shape Unusual facial appearance 0001999 Abnormality of dental enamel Abnormal tooth enamel Enamel abnormalities[rarediseases.info.nih.gov]

  • Congenital Mandibular Hypoplasia

    Vertebral abnormalities: hemivertebra or block vertebra, vertebral hypoplasia, absent ribs, short neck. Midline facial cleft.[patient.info] Coloboma: coloboma of the eyelids/iris/retina/choroid - most commonly of the upper eyelid, strabismus, epibulbar dermoid cyst, microphthalmia, anophthalmia, blepharoptosis[patient.info]

  • Neurogenic Arthrogryposis Multiplex Congenita

    Enamel abnormality [ more ] 0000682 Absent eyebrow Failure of development of eyebrows 0002223 Arthrogryposis multiplex congenita 0002804 Atypical scarring of skin Atypical[rarediseases.info.nih.gov] […] scarring 0000987 Autosomal recessive inheritance 0000007 Blepharophimosis Narrow opening between the eyelids 0000581 Brachycephaly Short and broad skull 0000248 Camptodactyly[rarediseases.info.nih.gov] […] people who have these symptoms is not available through HPO Abnormal facial shape Unusual facial appearance 0001999 Abnormality of dental enamel Abnormal tooth enamel Enamel abnormalities[rarediseases.info.nih.gov]

  • Arthrogryposis Multiplex Congenita

    Enamel abnormality [ more ] 0000682 Absent eyebrow Failure of development of eyebrows 0002223 Arthrogryposis multiplex congenita 0002804 Atypical scarring of skin Atypical[rarediseases.info.nih.gov] […] scarring 0000987 Autosomal recessive inheritance 0000007 Blepharophimosis Narrow opening between the eyelids 0000581 Brachycephaly Short and broad skull 0000248 Camptodactyly[rarediseases.info.nih.gov] […] people who have these symptoms is not available through HPO Abnormal facial shape Unusual facial appearance 0001999 Abnormality of dental enamel Abnormal tooth enamel Enamel abnormalities[rarediseases.info.nih.gov]

  • Kyphoscoliosis

    Abnormal brainstem MRI signal intensity Pointed chin Bifid uvula Broad nasal tip Highly arched eyebrow Thick vermilion border Downturned corners of mouth Wide nose Thick[mendelian.co] […] coloboma Depressed nasal bridge Large earlobe Highly elevated creatine phosphokinase Concave nasal ridge Absent muscle fiber merosin High forehead Thin upper lip vermilion[mendelian.co] Anteriorly placed anus Posteriorly rotated ears Hypospadias Syndactyly Wide nasal bridge Umbilical hernia Submucous cleft hard palate Premature loss of teeth Megalocornea Eyelid[mendelian.co]

  • Lattice Corneal Dystrophy Type 1

    Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery.[checkrare.com]

  • Autosomal Dominant Optic Atrophy and Cataract

    Symptoms Absent/short eyelids Absent eyebrows Absent eyelashes External ear abnormalities Alopecia Treatment Treatment usually involves plastic and reconstructive surgery.[checkrare.com]

  • Mandibulofacial Dysostosis

    […] tiny, absent or severely malformed outer ears a notch in the lower eyelid, called a coloboma a low scalp hairline reaching up to the cheekbones palatal abnormalities in two-thirds[news-medical.net] Some individuals have additional eye abnormalities that can lead to vision loss. It also characterized by absent, small, or unusually formed ears.[medicinenet.com] […] called an eyelid coloboma.[icdlist.com]

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