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344 Possible Causes for Retinal Degeneration, Round Face, Short Extremities

  • Mucopolysaccharidosis

    degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com] Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov]

  • 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] Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[neurology.testcatalog.org] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com]

  • Pseudohypoparathyroidism

    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] The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org]

  • Mucopolysaccharidosis 2

    […] 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] The skin may also show hypertrichosis and excessive Mongolian spots. [ 6 ] Other features Macrocephaly - common with a short trunk length compared to the extremities.[patient.info]

  • Neuhauser Syndrome

    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] […] distal and middle phalanges Varying shortening of extremities relative to trunk Prenatal ultrasonography may reveal the following: Detection of affected second-trimester[emedicine.medscape.com]

  • Osteogenesis Imperfecta

    […] severity • Similar in appearance and symptoms to Type IV Type VII: • Some cases resemble Type IV and others Type II, except that infants have white sclera, small heads and round[choc.org] Thierry Léveillard and Laurence Klipfel , Mechanisms Underlying the Visual Benefit of Cell Transplantation for the Treatment of Retinal Degenerations , International Journal[doi.org] Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    The disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[symptoma.com] A short trunk with kyphosis, short extremities with prominent joints and restricted mobility are distinctive features which are present in the first few years of life.[raredisorders.imedpub.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]

  • Smith Lemli Opitz Syndrome

    Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] These findings are discussed in the context of the potential involvement of 7-DHC-derived oxysterols in the retinal degeneration associated with the SLOS rat model and in[ncbi.nlm.nih.gov] A rat model of SLOS has been developed that exhibits progressive retinal degeneration and visual dysfunction; however, the molecular events underlying the degeneration and[ncbi.nlm.nih.gov]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] In this case, the retinal degeneration was morphologically different from retinal lattice degeneration, thus suggesting that it might be involved in the onset of DS-related[ncbi.nlm.nih.gov] Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com]

  • Chromosome 18p Deletion Syndrome

    […] 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] […] stature & short thumbs. 18q- occurs in about 1 of every 40,000 live births.[handresearch.com]

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