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498 Possible Causes for Recurrent Infection, 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] […] 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] Most patients with MPS 2 have progressive hearing loss and recurrent infections of the middle ear.[symptoma.com]

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] The early clinical characteristics were developmental delay, joint stiffness, coarse facies, recurrent respiratory tract infections, abdominal distention and hernia.[ncbi.nlm.nih.gov] […] ear infections, noisy breathing, and persistent nasal discharge; hirsutism, hearing loss, hydrocephalus, and mental retardation MPS I-H/S - Milder features; normal intelligence[emedicine.medscape.com]

  • 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] Stiffened joints Skeletal (bone) Carpal tunnel syndrome Heart (valve) disease Recurrent upper airway infections Lung disease/sleep apnea Corneal clouding Spinal cord compression[mps1disease.com] Affected individuals may also have hearing loss and recurrent ear infections.[ghr.nlm.nih.gov]

  • 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] 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] Additional features found at low frequency (and thus not appearing in Table I) in patients with NS include primary hypothyroidism (13, 24), recurrent infections (5, 7, 15,[azdoc.site]

  • Barth Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] infections due to a low white blood cell count (neutropenia).[nicklauschildrens.org]

  • Systemic Lupus Erythematosus

    pigment epithelium SD-OCT Spectral domain optical coherence tomography SLE Systemic lupus erythematosus SLEDAI SLE disease activity index SLICC Systemic Lupus International[doi.org] Depending on the dosage, people who require steroids may develop Cushing's syndrome, symptoms of which may include obesity, puffy round face, diabetes mellitus, increased[en.wikipedia.org] The patient not only presented with recurrent sinopulmonary infections, CD4 lymphopenia, lymphadenopathy, EBV viremia, and elevated serum IgM, but also met classification[ncbi.nlm.nih.gov]

  • 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] 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] Recently, multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in three families with classical GS.[ncbi.nlm.nih.gov]

  • Dubowitz Syndrome

    A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation.[icd10data.com] Eczema and recurrent infections require conservative treatment.[orpha.net] The face is small and often triangular in shape with a pointed, receding chin. The nose is broad with a wide or rounded tip.[poandpo.com]

  • Helsmoortel-van der Aa Syndrome

    The fundi showed mottling of the retinal pigment epithelium, discrete peripheral RPE clumping, and small areas of chorioretinal atrophy (some marked with arrows in A, B, more[iovs.arvojournals.org] face, heart anomalies cry like a cat t or f: sex chromosome disorders are much more drastic and less common false; less drastic, but more common sex chromosome extra x in[studyblue.com] Prophylactic native nephrectomy is indicated in patients with a history of cyst infection or recurrent haemorrhage or to those in whom space must be made to implant the graft[wjgnet.com]

  • Kniest Dysplasia

    Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[jamanetwork.com] 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] […] ear infections may lead to deafness Causes Kniest dysplasia is caused by new mutations in the COL2A1 gene.[dianamossop.com]

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