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Coarse facial features

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Added: 23.07.2018
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Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Term Hierarchy. Phenotypic abnormality Abnormality of head or neck Abnormality of the head Abnormality of the face Abnormal facial shape Coarse facial features Pugilistic facies. Conditions with this feature.
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Arthritis, and Coarse facial features

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Coarse facial features (Concept Id: C)

In the following list you will find some of the most common rare diseases related to Arthritis and Coarse facial features that can help you solving undiagnosed cases. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy MONA , but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported summary by Zankl et al. Short stature Flexion contracture Severe short stature Osteoporosis Coarse facial features. Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease.
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Coarse facial features

In the following list you will find some of the most common rare diseases related to Dysarthria and Coarse facial features that can help you solving undiagnosed cases. Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form ISSD or as a slowly progressive adult form that is prevalent in Finland Salla disease. The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI.
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