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Homocystinuria

OrphaNet reference
Classical homocystinuria 
May Cause
Acute pancreatitis
Advanced bone age
Alopecia
Anisospondyly
Arachnodactyly
Arterial calcification
Arterial dilatation
Arterial occlusion
Atherosclerosis
Biconcave vertebra
Bowed bones
Bowed tubular bones
Cataract
Clubfoot
Congenital foot deformity
Congenital generalized osteoporosis
Congenital heart disease
Congenital hepatomegaly
Congenital vertebral abnormality
Defective dentition
Delayed dentition
Dense epiphyses of hands and feet
Dense or thick skull
Dental defect
Diffusely dense calvarium
Disk calcification
Generalized wide epiphyseal plate
Genu valgum
Gigantism
Glaucoma
Intervertebral disk calcification
Intracranial calcification
Irregular epiphyseal ossification centers
Irregular epiphysis
Kyphoscoliosis
Lens dislocation
Long thin bones
Macrophthalmia
Marfanoid appearance
Metatarsus adductus
Microcephaly
Microspherophakia
Multiple abnormal epiphyses
Multiple fractures
Multiple intracranial calcification
Myocardial infarction
Myopia
Optic atrophy
Osteoporosis
Pancreatitis in a child
Pathologic fracture
Pectus carinatum
Pectus excavatum
Pes planus
Platyspondyly
Protrusio acetabuli
Renal artery aneurysm or microaneurysm
Sclerotic epiphysis
Scoliosis
Skin pigment abnormality
Skin rash
Soft-tissue calcification
Spinal osteopenia
Thick skull
Thromboembolism
Vascular calcification
Venous thrombosis
Widespread soft-tissue calcification

Copyright © 2019, Charles E. Kahn, Jr., MD, MS
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