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348 Possible Causes for Frontal Bossing, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis 2

    Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org] […] 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] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com]

  • Mucopolysaccharidosis

    bossing.[invitae.com] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Anteroposterior and lateral X-rays of the skull showed an calvarial thickening and depressed bridge of nose with frontal bossing with hypopneumatised mastoid ( Figure 3 ).[omicsonline.org]

  • Mucopolysaccharidosis 1

    On examination, child had dysmorphic features such as frontal bossing, hypertelorism, saddle nose, low-set ears, macroglossia, short stature, short neck, kyphosis of lumbar[jcor.in] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com]

  • Neuhauser Syndrome

    bossing and antimongoloid lid slanting.[disorders.eyes.arizona.edu] 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] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com]

  • Pseudohypoparathyroidism

    He and his mother were obese and had round faces, frontal bossing, small noses, flat nasal bridges, brachydactyly. His mother showed no hormonal resistance.[ncbi.nlm.nih.gov] 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]

  • Kniest Dysplasia

    The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[symptoma.com] […] characteristics of achondroplasia include the following [7] : Disproportionate short stature with rhizomelic (proximal) shortening of the arms and legs and large head with frontal[emedicine.medscape.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]

  • 3M Syndrome Type 1

    […] and radial perivascular retinal Lattice degeneration, both of which are present in up to 100% of affected patients [7] .[eyewiki.aao.org] Mulibrey nanism: includes prenatal and postnatal growth deficiency with relatively large hands, triangular facies with frontal bossing and depressed nasal bridge, small tongue[ncbi.nlm.nih.gov] Figure 1 Facial and skeletal features of patient no. 14 at 3 years of age. ( a ) Note the round face, frontal bossing, short nose and full lips. ( b ) Note tall vertebral[doi.org]

  • Zellweger Syndrome

    Most infants have a peculiar craniofacial dysmorphology with frontal bossing, large fontanels, and wide set eyes.[disorders.eyes.arizona.edu] 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]

  • Laurence Moon Syndrome

    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] Frontal bossing has been noted in some patients.[disorders.eyes.arizona.edu] Adiposity was particularly marked on the face, abdomen, chest and thighs mostly of feminine type as seen in Frohlich's syndrome.[ijo.in]

  • Chromosome 18p Deletion Syndrome

    Although there is significant phenotypic variation, some features are relatively constant and include 1 : decreased growth craniofacial dysmorphism midface hypoplasia frontal[radiopaedia.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] Degeneration (Marie Ataxia] Spondyloepiphyseal dysplasia congenita (SEDC).[neurometplus.com]

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