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10 Possible Causes for Cornea, Male Sterility, Short Stature - Postnatal Onset

  • Noonan Syndrome

    […] experience infertility (sterility).[rarediseases.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] It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[ncbi.nlm.nih.gov]

  • Spastic Ataxia with Congenital Miosis

    Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[kumc.edu] GUTTATA DEGENERAZIONE MARGINALE DEGENERAZIONE NODULARE DEGENERAZIONE NODULARE DI SALZMANN DEGENERAZIONI DELLA CORNEA DISTROFIA COMBINATA DELLA CORNEA DISTROFIA CORNEALE ANTERIORE[santobonopausilipon.it] Symptoms INHERITANCE: Autosomal recessive GROWTH: [Height]; Short stature (1 patient) HEAD AND NECK: [Ears]; Sensorineural deafness, postnatal, profound; [Eyes]; Nystagmus[findzebra.com]

  • Cole-Carpenter Syndrome

    The proptosis may be progressive and eventually interfere with blinking and normal surface wetting of the cornea.[disorders.eyes.arizona.edu] A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility.[scindeks.ceon.rs] At 7 years of age he had moderately reduced bone mineral density, macrocephaly of postnatal onset, and short stature, with facial features reminiscent of Cole-Carpenter syndrome[omim.org]

  • 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] Facts About The Cornea and Corneal Disease. National Eye Institute (NEI). Last Update: May 2013. Available at: Accessed March 30, 2016.[rarediseases.org] These patients often have prenatal or postnatal growth retardation, short stature, malar hypoplasia, telangiectatic erythema of the face and other regions, hypo- and hyperpigmentation[mayomedicallaboratories.com]

  • Classic Congenital Adrenal Hyperplasia

    Fertil Steril 47 : 664 – 670 21 2001 Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report.[doi.org] In the course of a 15-month follow-up period, a progression of the corneal disease was observed.[ncbi.nlm.nih.gov] short stature.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type Male Sterility due to Y-Chromosome Deletions Manouvrier Syndrome Marden Walker Like Syndrome Marden-Walker[rgd.mcw.edu] […] the cornea, altered refractive powers, and altered visual acuity.[meajo.org] short stature.[analesdepediatria.org]

  • Widow's Peak Syndrome

    Other features are cleft lip and cleft palate. [2] Ophthalmological findings include strabismus, ophthalmoplegia, large cornea, esotropia, nystagmus, and amblyopia. [3] Dental[jmgims.co.in] […] are phenotypically male, but they have reduced sperm production and may have some breast development in adolescence.[quizlet.com] A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his[ncbi.nlm.nih.gov]

  • Autosomal Dominant Mental Retardation Type 5

    Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type Male Sterility due to Y-Chromosome Deletions Manouvrier Syndrome Marden Walker Like Syndrome Marden-Walker[rgd.mcw.edu] The first signs of AAK appear in the first decade of life, with thickening and vascularization of the peripheral cornea, which gradually advances into the central cornea,[eyewiki.aao.org] Symptoms INHERITANCE: X-linked dominant GROWTH: [Height]; Relative short stature (compared to unaffected males in family); Short stature, postnatal onset HEAD AND NECK: [Ears[findzebra.com]

  • Autosomal Recessive Mental Retardation Type 3

    Pterygium (wedge-shaped growth that may affect conjunctiva cornea) Epicanthus (vertical skin fold on either side of the nose Ptosis (droopy eyelids) Color blindness.[tsbvi.edu] Possible dextrocardia, male sterility. Pyruvate Dehydrogenase Deficiency Autosomal Recessive.[kumc.edu] short stature.[analesdepediatria.org]

  • Moore-Federman Syndrome

    The role of X-chromosome inactivation during spermatogenesis (Drosophila-allocycly-chromosome evolution-male sterility-dosage compensation).[journals.sagepub.com] Ophthalmological investigations showed normal fundi, downward posterior lens luxation, normal corneae, and ocular tension of 22 OS and 17 mm Hg OD.[dev.docslide.net] Additionally, short stature is postnatal in geleophysic dysplasia but was of prenatal onset in all our Myhre patients.[jmg.bmj.com]