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476 Possible Causes for Diarrhea, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info] 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]

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] The most frequently reported adverse reactions included: chills, vomiting, nausea, arthralgia, diarrhea, tachycardia, abdominal pain, blood pressure increased, and oxygen[biomarin.com] Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly[orpha.net]

  • Gardner Syndrome

    BACKGROUND: It has been recently documented that multiple bilateral pigmented lesions at the level of the retinal pigment epithelium may be an indicator of patients with familial[ncbi.nlm.nih.gov] […] history of Gardner syndrome who had previously undergone a total colectomy with ileorectal anastomosis presented to the hospital with a recent history of sore throat, fever, diarrhea[ncbi.nlm.nih.gov] Epidermoid cysts commonly occur on the back, face, and chest, and communicate with the skin through a small, round, keratin-filled plug ( Figure 17 ).[aafp.org]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] 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] The most frequently reported adverse reactions included: chills, vomiting, nausea, arthralgia, diarrhea, tachycardia, abdominal pain, blood pressure increased, and oxygen[biomarin.com]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] 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]

  • Barth Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Diarrhea and/or constipation. Weak muscle tone may lead to fatigue and difficulty exercising.[news-medical.net] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Amyloidosis

    The circulating protein is synthesized predominantly in the liver, but there is also important local production in the eye by retinal pigment epithelial cells and by the choroid[nejm.org] Pedigree of Family with a PRNP Y163X Mutation Associated with Chronic Diarrhea and Autonomic Failure.[doi.org] Weight gain and rounded face. Muscle weakness (uncommon when used intermittently as for treating amyloidosis). Vaginal yeast infection.[ahajournals.org]

  • Medullary Thyroid Carcinoma

    pigmented epithelium (CHRPE), hepatoblastomas, and thyroid tumors.[nature.com] The patient's symptoms of diarrhea, coughing, and shortness of breath disappeared.[ncbi.nlm.nih.gov] He got gray hair, hand, foot and mouth disease and chemo-induced acne that caused black pigmentation problems on his face, chest and back.[today.com]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[ncbi.nlm.nih.gov] Adverse Reactions In the CHOLBAM clinical trials, diarrhea was the most common adverse reaction in approximately 2% of the patient population.[cholbam.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov]

  • Aarskog-Scott Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Choroideremia Chronic Granulomatous Disease Ciliary Dyskinesia Citrullinemia Cleidocranial Dysplasia Cockayne Syndrome Congenital Adrenal Hyperplasia Congenital Cataracts Congenital Diarrhea[hfi-ivf.com] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

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