Create issue ticket

592 Possible Causes for Diarrhea, Macrocephaly, 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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis

    The most frequently reported adverse reactions included: chills, vomiting, nausea, arthralgia, diarrhea, tachycardia, abdominal pain, blood pressure increased, and oxygen[biomarin.com] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[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 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] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.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

    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] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    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] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    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] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Spondyloepiphyseal Dysplasia Type Cantú

    […] syndrome type 2 4 cases 1389 Congenital enterocyte heparan sulfate deficiency 3 cases93352 Sparse hair - short stature - skin anomalies 4 cases 1529 Congenital malabsorptive diarrhea[fliphtml5.com] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] Am J Med Genet. 1996;64(3):447-52 Mental retardation, macrocephaly, short stature and craniofacial dysmorphism 0 *Dwarfism *Intellectual Disability *Macrocephaly.[reference.md]

  • Medullary Thyroid Carcinoma

    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] There is no international criteria for the diagnosis of BRRS, but Marsh et al 49 defined at least three of the following four features: macrocephaly, lipomatosis, hemangiomas[nature.com]

  • Kniest Dysplasia

    Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎[books.google.es] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[ncbi.nlm.nih.gov]

  • Gardner Syndrome

    […] 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] 2 or more biopsy-proben trichilemmomas 2 or more major criteria (one must be macrocephaly) Source: Eng C.[cancer.net]

Similar symptoms