Create issue ticket

170 Possible Causes for Cornea, Male Sterility, Skeletal Dysplasia

  • Laurence Moon Syndrome

    Grand father had polydactyly, aunt (father's sister) had polydactyly with sterility.[ijo.in] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebrofacial dysplasia Cerebro-oculo-facio-skeletal syndrome Charge association Charge syndrome Child syndrome[icd9data.com] CORNEA GUTTATA DISTROFIA COMBINATA DELLA CORNEA DISTROFIA ENDOTELIALE DI FUCHS DISTROFIA CORNEALE ENDOTELIALE POSTERIORE POLIMORFA RF0280 CHERATOCONO RF0290 CONGIUNTIVITE[amaram.it]

  • Noonan Syndrome

    […] experience infertility (sterility).[rarediseases.org] Skeletal dysplasia was proven to be secondary to a disorder of RAS-mitogen activated protein kinase (MAPK) pathway which is essential for regulation of cell differentiation[bone-abstracts.org] Br J Ophthalmol 1987, 71 : 235–8. 19 Bleshoy H : Sensitivity and neuropathology in the Keratoconic Cornea: PHD. City University, Northampton Square, London. 1990.[nature.com]

  • Prader-Willi Syndrome

    Only patients with an ultrasound, anteroposterior (AP) spine, AP abdomen, AP hip radiograph, and/or skeletal survey were included in the study.[ncbi.nlm.nih.gov] In 1976, physicians became aware that Creutzfeldt–Jakob disease could be transmitted by neurosurgical procedures and cornea transplantation.[en.wikipedia.org] Occasional abnormalities Skeletal findings: Scoliosis, kyphosis and hip dysplasia.[atlasgeneticsoncology.org]

  • Mucopolysaccharidosis 1S

    The 3D model was printed on a Makerbot Replicator 5X, sterilized ( Figure 1 ), and could be used for cell culture or in vitro release studies.[f1000research.com] Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.[en.wikipedia.org] Metabolic disorders of the cornea. In: Kaufman HE, Barron BA, McDonald MB, editors. The Cornea. 2 nd ed. Boston: Butterworth-Heinmann; 1998. p. 391-401. 9. Epstein RL.[jcor.in]

  • Osteogenesis Imperfecta

    Transgenic mice with inactive alleles for procollagen N-proteinase (ADAMTS-2) develop fragile skin and male sterility. Biochem. J. 355, 271–278 (2001). 241. Weintrob, J.[doi.org] When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis.[ncbi.nlm.nih.gov] Medical Center, Lebanon, New Hampshire. 2 Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts; Research Institute of Ophthalmology, Cairo, Egypt. 3 Cornea[ncbi.nlm.nih.gov]

  • Bloom Syndrome

    Clinical findings Pre- and postnatal growth deficiency, photosensitivity, benign and malignant tumours in childhood, male sterility, scattered skin lesions (facial telangiectasias[medical-dictionary.thefreedictionary.com] CHST3 -Related Skeletal Dysplasia Andrea Superti-Furga and Sheila Unger. Initial Posting: September 1, 2011; Last Update: January 31, 2019.[ncbi.nlm.nih.gov] Facts About The Cornea and Corneal Disease. National Eye Institute (NEI). Last Update: May 2013. Available at: Accessed March 30, 2016.[rarediseases.org]

  • Cockayne Syndrome

    Eye problems include retinal degeneration, optic nerve atrophy, sunken eyes, poor lid closure and drying of the cornea. The ears tend to be malformed with hearing loss.[medicinenet.com] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B MOLECULAR-AND-CELLULAR-BIOLOGY.[malattierare.regione.veneto.it]

  • Cole-Carpenter Syndrome

    A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.[scindeks.ceon.rs] dysplasias.[books.google.com] The proptosis may be progressive and eventually interfere with blinking and normal surface wetting of the cornea.[disorders.eyes.arizona.edu]

  • MELAS Syndrome

    Park, A codominant SCAR marker linked to the genic male sterility gene (ms) in chili pepper (Capsicum annuum), Plant Breeding, 129, 1, (35-38), (2009).[doi.org] […] retinal pigment epithelium, inner segments of the photoreceptors, smooth muscle cells of the choroidal and retinal vessels, the dilator and sphincter muscle of the iris, cornea[ncbi.nlm.nih.gov] Cornea reflexes were present and gag reflex absent.[doi.org]

  • Down Syndrome

    Chromosoma 73:369–379 Google Scholar Chandley AC (1982) A pachytene analysis of two male-fertile paracentric inversions in chromosome 1 of the mouse and in the male-sterile[oadoi.org] Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[emedicine.com] Kanako has stunted growth, underdeveloped teeth, congenital heart disease and partial blindness stemming from a progressive thinning of her corneas -- all symptoms typical[upi.com]

Similar symptoms