Microcephalic osteodysplastic dysplasia, Saul-Wilson type

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Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Microcephalic osteodysplastic dysplasia Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype short stature brachydactyly clubfoot deformities cataracts and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture a narrow nasal root with a beaked nose and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies hypoplasia of the odontoid process short phalanges coning several epiphyses etc.).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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