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706 Possible Causes for Ectopia Lentis, Sparse Hair

  • Homocystinuria

    Symptoms of homocystinuria include mental retardation; displacement of the lenses of the eyes; shuffling gait; fine, sparse hair; skeletal deformations; and sometimes fatal[] KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[] The hereditary form features sparse blond hair, OSTEOPOROSIS with overgrowth of long bones, a hollowed chest, dislocation of the lenses of the eyes and mental retardation.[]

  • Goldberg-Shprintzen Syndrome

    hair), cleft palate and iris coloboma.[] […] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations[] One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[]

  • Oculo-Osteo-Cutaneous Syndrome

    15 absent pubic hair 32 HP:0002555 16 hypoplastic nipples 32 HP:0002557 17 short stature 32 HP:0004322 18 opacification of the corneal stroma 32 HP:0007759 19 sparse hair[] Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis[] lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome[]

  • Coats Plus Syndrome

    hair, and dysplastic nails without cyst formation.[] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[] hair, dystrophic nails, and primeval splashes of intracranial calcification.[]

  • Renpenning Syndrome

    hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal[] Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[] hair.[]

  • Isolated Congenital Sclerocornea

    HYPOPLASIA; CHH Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair.[] lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea[] Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism. Clin. Dysmorph. 3: 309-317, 1994.[] Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia[] Flared wide portion of long bone of upper arm 0003911 Flared iliac wings 0002869 Genu varum Outward bow-leggedness Outward bowing at knees [ more ] 0002970 Hypotrichosis Sparse[]

  • Tollner-Horst-Manzke Syndrome

    hair and telangiectases Glomerulopathy with fibronectin deposits 1 Glomerulopathy with fibronectin deposits 2 Glucocorticoid-remediable aldosteronism Glucose transporter[] Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema, or mental retardation[] lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz[]

  • Hidrotic Ectodermal Dysplasia

    Sparse scalp hair and dysplastic nails are seen early in life.[] lentis Coxa valga Ulnar bowing Absent frontal sinuses Juvenile cataract Irregular proximal tibial epiphyses Small distal femoral epiphysis Flexion contracture Wide tufts[] Underdeveloped Thick, discolored Hair Fine, brittle, slow-growing Total balding (alopecia) Missing in spots for males Sparse eyelashes Sparse eyebrow Absent underarm hair[]

  • Secondary Syphilis

    lentis. 4 Acquired syphilis is divided conventionally into four stages. 4 Primary syphilis is characterized by the formation of a painless chancre, which typically appears[] […] features, including Hutchinson's teeth, saddle nose deformity and deafness, and can also cause ocular complications, most notably interstitial keratitis (See Figure 1) and ectopia[]

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