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3,291 Possible Causes for Corneal Opacity, Early-Onset Coronary Artery Stenosis, Hirsutism

  • Mucopolysaccharidosis 1 H-S

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net] Other symptoms may include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[cags.org.ae]

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[radiopaedia.org] Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[britannica.com] Hurler syndrome patients have progressive mental degeneration, a broad forehead with heavy eyebrows, enlarged and deformed skull, small stature, corneal opacities, hepatosplenomegaly[medicinenet.com]

  • Mucopolysaccharidosis

    […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[ncbi.nlm.nih.gov] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 6

    [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.com] A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic[unboundmedicine.com] Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[bhj.org.in]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com] opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications.[icd10data.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 7

    Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org] opacity and iris coloboma in the nose: anteverted nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the[en.wikipedia.org] Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses.[invitae.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.[malacards.org] Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities[ncbi.nlm.nih.gov] Coarse face and body hirsutism are additional features.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Turner Syndrome

    Turner syndrome (TS), also known as 45,X or 45,X0, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen[…][en.wikipedia.org]

    Missing: Early-Onset Coronary Artery Stenosis
  • Winchester Syndrome

    hypertrichosis / Increased body hair - Irregular / in bands / reticular skin hyperpigmentation - Long / large / bulbous nose - Thick lips - Thick skin / pachydermia / orange[csbg.cnb.csic.es] The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] Abstract The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Cerebro-Oculo-Facio-Skeletal Syndrome

    […] metatarsal posteriorly placed CHEST Breasts Widely spaced nipples GROWTH Weight Normal birth weight,Failure to thrive INHERITANCE Autosomal recessive SKIN, NAILS, HAIR Hair Hirsutism[datapunk.net] A three-month-old infant was referred with bilateral corneal opacities and microphthalmos.[ncbi.nlm.nih.gov] […] bird-likefaciesProminent nasal root NCachexia N Y Y N NClinical photosensitivity Y/N Y/N Y (severe) N NPigmentary changes and skincancersN N Y N NPolymicrogyria/pachygyria N N N Y NFacial hypertrichosis[docslide.com.br]

    Missing: Early-Onset Coronary Artery Stenosis

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