Mikrocefaliczna dysplazja osteodysplastyczna, typ Saula i Wilsona

Kod Orpha: 85172Kod OMIM: 618150

Definicja

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 <i>etc.</i>).

Dane
Klasyfikacja

Choroba

Kod ORPHA
85172
Kod OMIM
618150
Kod ICD10
Q78.8
Kod ICD11
LD24.D

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