Cono-spondylar dysplasia

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Cono-spondylar dysplasia

Synonyms: Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis marked brachydactyly and irregular pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay intellectual disability hypotonia epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face slight mid-face hypoplasia hypertelorism epicanthic folds low-set ears anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.

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: // Data version September 2023.

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