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11 Possible Causes for Cataract, Male Sterility, Prominent High Nasal Root

  • Noonan Syndrome

    […] experience infertility (sterility).[rarediseases.org] He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com]

  • Chudley-Rozdilsky Syndrome

    sterility due to chromosome Y Parkinsonism linked to Mediastinal endodermal sinus deletion chromosome 17 tumors Pterygium white sclerae Chronic berylliosis frontotemporal[yumpu.com] Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov]

  • X-Linked Mandibulofacial Dysostosis

    One-sixth of situs inversus cases have the syndrome Immobility of the sperm produces sterility in the males; affected females may have decreased fertility.[slideplayer.com] Retardation-Spasticity-Distal Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract[neo-genetics.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[fatchiyah.lecture.ub.ac.id] Treatment Treatment Options: Cataract surgery may be indicated in young females and may be beneficial in infant boys.[disorders.eyes.arizona.edu] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk]

  • Ring Chromosome 7

    Fertility was not affected though in males, ring chromosomes have been associated with sterility through spermatogenic impairment ( 16 ).[tp.amegroups.com] […] meningitis Asperger syndrome asphyxiating thoracic dystrophy Asrar Facharzt Haque Syndrome Astley-Kendall Syndrome Asymmetric Short Stature Syndrome Ataxia-Microcephaly-Cataract[rgd.mcw.edu] […] crus of helix 0009899 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal[rarediseases.info.nih.gov]

  • Wolf Hirschhorn Syndrome

    Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[kumc.edu] […] palpebral fissures Epicanthal folds Strabismus Coloboma Proptosis due to hypoplasia of orbital ridges Ectopic pupils Exotropia Ptosis Microphthalmia Megalocornea Sclerocornea Cataracts[emedicine.medscape.com] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com]

  • Trisomy 18p

    Klinefelter syndrome, also known as XXY syndrome, is the result of an extra X chromosome in males. It is associated with high rates of sterility and sexual dysfunction.[verywell.com] Some affected infants also have clouding of the normally transparent front regions of the eyes (corneas); loss of transparency of the lenses (cataracts); absence or defects[rarediseases.org] She was noted to have dysmorphic features (prominent occiput, high-arched palate, short nose with anteverted nares, orbital hypertelorism, depressed nasal root, low set ears[synapse.koreamed.org]

  • Pancreatic Insufficiency - Anemia - Hyperostosis Syndrome

    Sertoli Cell-only Syndrome 1 members Sertoli cell-only syndrome is a rare disorder characterized by male sterility without sexual abnormality due to the absence of seminiferous[rareshare.org] ] CRYGC P07315 non-pleiotropic Cataract 2, multiple types (CTRCT2) [MIM: 604307 ] CRYGD P07320 non-pleiotropic Cataract 4, multiple types (CTRCT4) [MIM: 115700 ] CRYGS P22914[sbg.bio.ic.ac.uk] Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences[ncbi.nlm.nih.gov]

  • Autosomal Recessive Mental Retardation Type 3

    Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[kumc.edu] Figure 1 Pedigree of the studied family showing autosomal recessive inheritance of the congenital cataract.[iovs.arvojournals.org] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Steril. 29: 239-240, 1978. 4. Fryns, J. P.; Vogels, A.; Decock, P.; van den Berghe, H.: The hand-foot-genital syndrome: on the variable expression in affected males.[genome.jp] Cataract and glaucoma are common complications occurring at a later age in some cases.[fetalultrasound.com] ; [Ears]; Attached ear lobules; [Eyes]; Downslanting palpebral fissures; [Nose]; Prominent nasolabial folds; Broad nasal bridge; Broad nasal root; [Mouth]; Small mouth; High-arched[findzebra.com]

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