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5,856 Possible Causes for Early-Onset Coronary Artery Stenosis, Hirsutism, Mental Retardation

  • 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] retardation.[medical-dictionary.thefreedictionary.com]

  • 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] Symptoms include mental retardation, dwarfism, dysostosis multiplex, corneal clouding, deafness, hernia, stiff joints (claw hand), and valvular heart disease.[medicine.academic.ru]

  • Hypomandibular Faciocranial Dysostosis

    Overfriendliness Nystagmus-induced head nodding Early onset of sexual maturation Coronary artery stenosis Functional abnormality of male internal genitalia Dyssynergia Thyroid[mendelian.co] Hypertrichosis lanuginosa, acquired Hypertrichosis retinopathy dysmorphism Hypertrichosis, anterior cervical Hypertrichotic osteochondrodysplasia Hypertriglycidemia Hypertrophic[starrepublic.org] retardation Cardiac septal defect Patent ductus arteriosus Note that Hypomandibular faciocranial dysostosis symptoms usually refers to various symptoms known to a patient[checkorphan.org]

  • 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] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[ncbi.nlm.nih.gov] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

    Missing: Early-Onset Coronary Artery Stenosis
  • Generalized Lipodystrophy

    The diagnosis is made on the basis of loss of body fat, muscular hypertrophy, acanthosis nigricans, hirsutism, hepatomegaly with fatty liver, hyperlipidemia and hyperglycemia[ncbi.nlm.nih.gov] However, patients with BSCL2 mutations had lower serum leptin levels, an earlier onset of diabetes, and higher prevalence of mild mental retardation compared with other subtypes[ncbi.nlm.nih.gov] Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found.[ncbi.nlm.nih.gov]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.com]

    Missing: Early-Onset Coronary Artery Stenosis
  • Rubinstein-Taybi Syndrome

    A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad[ncbi.nlm.nih.gov] The Rubinstein-Taybi syndrome (RTS; OMIM 180849) is a well-defined mental retardation/multiple congenital anomalies (MR/MCA) syndrome characterized by postnatal growth retardation[ncbi.nlm.nih.gov] Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes,[ncbi.nlm.nih.gov]

    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] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] 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]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 3

    The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org] retardation, hearing loss, and visceral manifestations, such as mild hepatomegaly, joint stiffness, vertebral bodies and hypertrichosis.[phoenixnestbiotech.com] Children with Sanfilippo syndrome are often described as having coarse hair, heavy eyebrows and increased hirsuteness (body hair) but many children with the syndrome do not[socialstyrelsen.se]

    Missing: Early-Onset Coronary Artery Stenosis
  • Fetal Hydantoin Syndrome

    […] malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar creases, hirsutism[ncbi.nlm.nih.gov] Symptoms of FHS include microcephaly, hypoplasia or absence of nails on the fingers or toes, abnormal facies, mental and physical retardation, and cardiac defects.[medical-dictionary.thefreedictionary.com] Digital hypoplasia, irregular ossification of the distal phalanges with nail dystrophy, coarse profuse scalp hair, hirsutism, short neck, abdominal hernias, cardiac abnormalities[healio.com]

    Missing: Early-Onset Coronary Artery Stenosis

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