Larsen-like osseous dysplasia-short stature syndrome

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Larsen-like osseous dysplasia-short stature syndrome

Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple congenital large joint dislocations craniofacial abnormalities (i.e. macrocephaly flat occiput prominent forehead hypertelorism low-set malformed ears flat nose cleft palate) spinal abnormalities cylindrical fingers and talipes equinovarus as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay hypotonia clinodactyly congenital heart defect and renal dysplasia.

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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