Spondylometaphyseal dysplasia-corneal dystrophy syndrome

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Spondylometaphyseal dysplasia-corneal dystrophy syndrome

Synonyms: SMD-corneal dystrophy syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement narrow chest abnormalities of the spine pelvis and metaphyses corneal clouding and patent ductus arteriosus. Dysmorphic facial features include hypertelorism prominent eyes depressed nasal bridge and short upturned nose.

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 November 2023

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