Spondyloperipheral dysplasia-short ulna syndrome
Spondyloperipheral dysplasia-short ulna syndrome is a rare genetic primary bone dysplasia with highly variable phenotype typically characterized by platyspondyly brachydactyly type E changes (short metacarpals and metatarsals short distal phalanges in hands and feet) bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia degenerative changes in proximal femora limited elbow extension bilateral sacralization of L5 clubfeet) as well as myopia hearing loss and intellectual disability.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Spondyloperipheral dysplasia-short ulna syndrome?
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