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466 Possible Causes for Joint Contracture, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[] Major clinical manifestations include joint contractures, obstructive and restrictive airway disease, cardiac disease, skeletal deformities and often mental retardation.[] […] 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[]

  • Mucopolysaccharidosis

    pigment epithelium.[] Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the[] contractures, and funnel chest.[]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[] Other treatments Orthopaedic surgery for joint contractures and skeletal deformities.[] Mucopolysaccharidosis type II (see this term), an X-linked recessive disorder in which severe joint contractures are a characteristic symptom, also has many features in common[]

  • Geleophysic Dysplasia

    Cell spreading of adult retinal pigmented epithelial cells (ARPE-19) on fibrillin-1 and fibrillin-2 protein fragments.[] Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.[] face with full cheeks.[]

  • Kniest Dysplasia

    Giant retinal macrocysts made flattening of thethinned, foreshortened, cystic retina difficult.[] TREATMENT: prevent joint contractures and muscle atrophy; hearing and eye care[] 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 [[]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[] Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy[] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[]

  • Cockayne Syndrome

    pigment, miotic pupils may be difficult to dilate, cataracts, optic atrophy Teeth Dental caries Bloom syndrome (p. 234) Roth m u nd Thomson syndrome (p. 238) Hartnup syndrome[] contractures, and growth failure.[] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[]

  • Trisomy 12p

    pigmentation, macular abnormality) occur.[] PKS was characterized by profound psychomotor retardation, inability to sit or speak, seizures, and joint contractures.[] […] impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities (cataract, retinal[]

  • Schwartz-Jampel Syndrome

    The aim of this report is to describe an Egyptian patient with Schwartz Jampel syndrome type IB and retinal pigment epithelial atrophy.[] Schwartz-Jampel syndrome is a rare inherited autosomal recessive disorder characterized by generalized myotonia, joint contractures, skeletal abnormalities and facial dysmorphism[] […] back [ more ] 0002808 Mask-like facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Micrognathia Little lower jaw Small jaw[]

  • Zellweger Syndrome

    pigmentation, and 50% of control fibroblast dihydroxyacetone phosphate acyltransferase activity.[] contractures Stippled epiphyses Camptodactyly Cardiovascular Features Cardiac septal defects PDA Other Features Hepatomegaly Postnatal growth deficiency and low birth weight[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[]

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