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809 Possible Causes for Alopecia, Ectopia Lentis, Nystagmus

  • Stroke

    Patients have a marfanoid habitus, ectopia lentis, and myopia and generally have intellectual disability. [29] Thromboembolic events are the most common cause of death for[emedicine.com] . • Young women presents as a photosensitive facial rash with pruritic lower lip cheilitis, • May be a/w conjunctivitis, eyebrow alopecia and pterygion. • Distinguished from[slideshare.net] The first patient (female, 50 years old) had dysarthria, nystagmus and trunk ataxia on admission. Her blood alcohol level was 2.3‰.[ncbi.nlm.nih.gov]

  • Oculo-Osteo-Cutaneous Syndrome

    Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[rgd.mcw.edu] 32 HP:0009803 22 short metacarpal 32 HP:0010049 23 short metatarsal 32 HP:0010743 UMLS symptoms related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism: irregular nystagmus[malacards.org] lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[familydiagnosis.com]

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] The transgenic Cbs -/- animals exhibited facial alopecia, had moderate liver steatosis, and were slightly smaller than heterozygous littermates.[ncbi.nlm.nih.gov] Other findings included peripheral retinopathy (8/12 [67%]), nystagmus (8/12 [67%]), strabismus (5/12 [42%]), and optic atrophy (6/12 [50%]).[ncbi.nlm.nih.gov]

  • Tollner-Horst-Manzke Syndrome

    lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz[rarediseases.info.nih.gov] Paraplegia Epilepsy Mental Retardation Spastic Paraplegia with Kallmann Syndrome Spastic Paraplegia, Ataxia, and Mental Retardation SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS[rgd.mcw.edu] […] epilepsy oligophrenia syndrome of Moynahan Alopecia intellectual disability syndrome 2 Alopecia totalis Alopecia universalis Alopecia universalis onychodystrophy vitiligo[rarediseases.info.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia[rgd.mcw.edu] (CMN) Idiopathic congenital nystagmus (ICN) Nystagmus is an eye movement disorder in which one or both eyes are in constant movement.[kegg.jp] Congenital malformation H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked[kegg.jp]

  • Bellini-Chiumello-Rinoldi Syndrome

    lentis Blepharospasm Blethen–Wenick–Hawkins syndrome black death Blo–Blu [ edit ] Blomstrand syndrome Blood coagulation disorders Blood platelet disorders Blood vessel disorder[en.wikipedia.org] The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.[orpha.net] […] retardation Brachydactyly elbow wrist dysplasia Brachydactyly hypertension Brachydactyly long thumb type Brachydactyly mesomelia mental retardation heart defects Brachydactyly nystagmus[en.wikipedia.org]

  • Knobloch Syndrome Type 1

    In addition, six children had temporal ectopia lentis, found had posterior perinuclear lens opacity, two had developmental delay, one developed epilepsy, and one had heterotopic[cags.org.ae] #601705 Omenn syndrome #603554 TP: Two sisters with congenital alopecia #601705.[cbs.dtu.dk] Nystagmus (dancing of the eyes), and strabismus (crossing of the eyes) are often present.[disorders.eyes.arizona.edu]

  • Isolated Congenital Sclerocornea

    lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[se-atlas.de] The presence of corneal dermoid with an ipsilateral area of alopecia or nevus of the scalp should prompt MRI to evaluate for intracranial abnormalities and to diagnose encephalocraniocutaneous[emedicine.medscape.com] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org]

  • Oculodentodigital Dysplasia

    lentis Glioma Abnormality of immune system physiology Hallucinations Intellectual disability, profound Intellectual disability, progressive Deeply set eye Amenorrhea Self-injurious[mendelian.co] Poikiloderma with Neutropenia Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes Rapp-Hodgkin Syndrome Rosselli-Gulienetti Syndrome Rothmund-Thomson Syndrome[nfed.org] Additional findings consisted of gaze palsy and squinting (28), bladder and bowel disturbances (21), visual loss (20) and blindness (4), hearing loss (15), ataxia (11), nystagmus[ncbi.nlm.nih.gov]

  • Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

    Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org] […] and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.[mendelian.co] Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.aao.org]

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