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508 Possible Causes for Diarrhea, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis 2

    Skeletal irregularities, vision problems, heart problems, diarrhea, joint stiffness, stunted growth and delayed development may be present.[symptoma.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly[orpha.net]

  • Mucopolysaccharidosis

    The most frequently reported adverse reactions included: chills, vomiting, nausea, arthralgia, diarrhea, tachycardia, abdominal pain, blood pressure increased, and oxygen[biomarin.com] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly[orpha.net]

  • Mucopolysaccharidosis 1

    Diet A dietician can help you create a nutrition plan to help your baby control diarrhea and constipation, which may occur in those with severe MPS I.[babysfirsttest.org] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] The most frequently reported adverse reactions included: chills, vomiting, nausea, arthralgia, diarrhea, tachycardia, abdominal pain, blood pressure increased, and oxygen[biomarin.com]

  • Neuhauser Syndrome

    Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com] For this reason, it commonly occurs in people with post-operative who have diarrhea induced by post-operative antibiotics.[en.wikipedia.org] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov]

  • Adrenal Insufficiency

    Diarrhea following organ transplantation is usually associated with infection and immunosuppression therapy.[ncbi.nlm.nih.gov] face, obesity around the waist, abdominal striae), while having symptoms of adrenal insufficiency.[uclahealth.org] Serge Bourgault, Catherine Baril, Ajoy Vincent, Elise Héon, Asim Ali, Ian MacDonald, Gregg T Lueder, Kevin M Colleaux and Isabelle Laliberté, Retinal degeneration in autoimmune[doi.org]

  • Addison's Disease

    Excessive diarrhea and vomiting among patients may also benefit from the sodium supplementations.[symptoma.com] People with Cushing’s typically have a rounded “moon” face, gain weight around the trunk, and have slender arms and legs.[lifeextension.com] Serge Bourgault, Catherine Baril, Ajoy Vincent, Elise Héon, Asim Ali, Ian MacDonald, Gregg T Lueder, Kevin M Colleaux and Isabelle Laliberté, Retinal degeneration in autoimmune[doi.org]

  • Pseudohypoparathyroidism

    Third, pediatric 1, repeated cold, chronic cough asthma. 2, anorexia, non-food, growth and development behind, constipation, diarrhea, abdominal pain 3, night cry, shock epilepsy[opencare.com] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com] Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[doi.org]

  • Hirschsprung's Disease

    We report the case of a 2-year-old boy with Hirschsprung's disease who developed perianal pseudoverrucous papules and nodules subsequent to persistent diarrhea and stool leakage[ncbi.nlm.nih.gov] Following round 3 of the Delphi process, 40 experts will be invited to attend a face-to-face consensus meeting.[ncbi.nlm.nih.gov] Nishina, Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity, Mammalian Genome, 10.1007/s00335-[doi.org]

  • Alstrom Syndrome

    Side effects include intestinal gas and diarrhea.[naturallivingcenter.net] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[symptoma.com] degeneration before the age of 1 year (P 0.02), the occurrence of urological dysfunction (P 0.02), of DCM (P 0.03), and of diabetes (P 0.03).[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Symptoms usually start shortly after birth and include vomiting, lack of energy, low blood sugar (hypoglycemia), diarrhea, and poor growth.[natera.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] degeneration, or muscle atrophy, depending on which gene is causative.[invitae.com]

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