Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

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Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability progressive spondyloepimetaphyseal dysplasia short stature short fourth metatarsals and dysmorphic craniofacial features (including microcephaly hypertelorism epicanthal folds mild ptosis strabismus malar hypoplasia short nose depressed nasal bridge full lips small low-set ears and short neck). Craniosynostosis generalized hypotonia as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.

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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