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599 Possible Causes for Retinal Degeneration, Round Face, Short Stature

  • Mucopolysaccharidosis 2

    MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.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] Typical signs and symptoms include: Hearing impairment Joint stiffness Coarse face Upper airway disease Carpal tunnel syndrome Communicating hydrocephalus Retinal degeneration[symptoma.com]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Although coarse facial features, short stature, skeletal dysplasia reminiscent of dysostosis multiplex, cardiac and respiratory disease as well as corneal clouding are universal[symptoma.com] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] This syndrome was initially described in 1996 with manifestations such as short stature, frequent ear infections, cleft palate, soft-tissue masses and acetabular erosions.[news-medical.net]

  • Neuhauser Syndrome

    Some affected individuals experience growth delays ultimately resulting in short stature.[rarediseases.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] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com]

  • Pseudohypoparathyroidism

    The patient had short stature, brachydactyly, and subcutaneous heterotopic ossifications.[ncbi.nlm.nih.gov] The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[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]

  • Alstrom Syndrome

    We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of[ncbi.nlm.nih.gov] 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]

  • Laurence Moon Syndrome

    Endocrinology advice regarding short stature and hypogonadism. Growth hormone treatment may be useful. Speech therapy. Renal opinion.[patient.info] 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]

  • Kniest Dysplasia

    Families with skeletal dysplasias or short stature of known or suspected genetic basis will be enrolled.[clinicaltrials.gov] 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 disease also causes ocular abnormalities, such as retinopathy, vitreoretinal degeneration, cataract, glaucoma, retinal detachment, myopia.[symptoma.com]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Syndrome 1 3q29 Microdeletion Syndrome Achondroplasia Acrocephalopolysyndactyly Type III Alpha-Thalassemia / Mental Retardation Syndrome, Chromosome 16-Related Asymmetric Short[familydiagnosis.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] degeneration, or muscle atrophy, depending on which gene is causative.[invitae.com]

  • Chromosome 18p Deletion Syndrome

    […] by a deletion of the short arm (the p arm) of chromosome 18; typical features include: mental retardation, short stature & short thumbs. 18q- occurs in about 1 of every 40,000[handresearch.com] […] 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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