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366 Possible Causes for Retinal Degeneration, Round Face

  • Mucopolysaccharidosis

    Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.com] Corneal clouding was mentioned as another symptom characteristic of MPS and may be associated with glaucoma, retinal degeneration, and optic nerve swelling with subsequent[symptoma.com] Glaucoma, retinal degeneration, and clouded corneas may significantly impair vision.[en.wikipedia.org]

  • Mucopolysaccharidosis 2

    Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com] Retinal degeneration is seen to a lesser degree in MPS IIB. Patients diagnosed with MPS IIB can live beyond the fifth decade of life.[emedicine.medscape.com] Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life.[icd10data.com]

  • Mucopolysaccharidosis 1

    Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] Glaucoma, retinal degeneration, and clouded corneas may significantly impair vision.[wikidoc.org] […] phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency Infantile Krabbe disease Infantile Refsum disease Infantile cerebellar-retinal[se-atlas.de]

  • Neuhauser Syndrome

    Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com] 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] Facial features included a round face, low frontal hairline, mild frontal bossing, broad nasal bridge, large corneas, mild hypertelorism, long upper lip, high palate, and[omim.org]

  • Pseudohypoparathyroidism

    The phenotype of Albright syndrome includes 5 common features: brachydactyly, obesity, short stature, a round face, and mental retardation.[ncbi.nlm.nih.gov] Corneal opacities, macular degeneration, nystagmus, anisocoria, papilloedema, tortuosity of retinal vessels and microphthalmia have also been reported 8, 185, 186, 187, 188[doi.org] 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]

  • Laurence Moon Syndrome

    Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome.[ijo.in] Laurence-Moon-Biedl syndrome A rare genetic disorder featuring mental retardation, extra toes or fingers, and a retinal degeneration, RETINITIS PIGMENTOSA, that may progress[medical-dictionary.thefreedictionary.com] Tapeto-retinal degeneration is the most common sign.[healio.com]

  • Zellweger Syndrome

    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] Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[ninds.nih.gov] degeneration, multiple organ dysfunction, and psychomotor impairment, and it comprises the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile[centogene.com]

  • Kniest Dysplasia

    Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).[monarchinitiative.org] All of the patients had congenital severe myopia and vitreoretinal degeneration. Four patients developed rhegmatogenous retinal detachments.[ncbi.nlm.nih.gov] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

  • Alstrom Syndrome

    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] Patients have distinctive facial characteristics (deep-set eyes with a rounded face, thick ears, premature frontal balding, and thin hair).[orpha.net]

  • Congenital Muscular Dystrophy

    The eyes presented with severe myopia and retinal dysplasia.[doi.org] The MRI showed cortical gyration of the frontal lobes, micropolygyria of the temporal lobe, and bilateral microcystic degeneration of the cerebellar cortex.[doi.org]

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