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254 Possible Causes for Retinal Degeneration, Round Face, Short Stature in Children

  • 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] The signs and symptoms may include abnormal facial features, cloudy corneas, abnormal development of spine, heart valve defects, and short stature in children A healthcare[dovemed.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]

  • Mucopolysaccharidosis

    degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] Many children develop a short body trunk and a maximum stature of less than 4 feet.[en.wikipedia.org] 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]

  • 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] Corneal clouding and cognitive impairment develop, as well as cessation of growth, causing short stature. Joint stiffness and contractures limit mobility.[patient.info] The severe form of MPS I is known as Hurler syndrome or MPS I H : Children affected with the severe form may have mental retardation, short stature, stiff joints, speech and[verywell.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] We report three cases of primary osteoma cutis in children, two of whom (siblings) were associated with Albright's hereditary osteodystrophy (AHO), manifesting as short stature[ncbi.nlm.nih.gov]

  • 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]

  • Growth Failure

    The first presented with retinal degeneration, short stature, and delayed puberty, and had GHD diagnosed by a clonidine stimulation test.[academic.oup.com] […] lead to short stature.[rileychildrens.org] , a temporal fat pad, round face, diabetes and other symptoms listed below.[csrf.net]

  • 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] ., eye abnormalities, visual impairment, intellectual disabilities, neuromuscular abnormalities, short stature, craniofacial abnormalities, etc.].)[rarediseases.org]

  • Vitamin D Deficiency

    […] detachment, glaucoma, macular degeneration, amblyopia and cataracts. 131,132 Saw S-M, Gazzard G, Shih-Yen EC, Chua W-H.[doi.org] NIWA provides a year round daily guide of the UV throughout New Zealand.[health.govt.nz] Scholar] This high prevalence of myopia presents a major public health problem since, in addition to requiring corrective lenses, myopia poses substantially increased risk of retinal[doi.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] To investigate if there is an endocrinologic explanation for the short stature in patients with Alström syndrome. Patient reports.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 49

    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] SHOX-related short stature : Aetna considers genetic testing for SHOX-related short stature medically necessary for children and adolescents with any of the following features[aetna.com]

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