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De Barsy syndrome
De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
ORPHA:2962Classification level: Disorder
Prevalence is unknown but around 30 cases have been described in the literature so far.
The etiology remains unknown in most cases, however, mutations in the PYCR1 gene (17q25.3) have recently been identified in patients with overlapping phenotypes (wrinkly skin, osteopenia and progeroid features) of DBS, autosomal recessive CL type 2 (ARCL2), wrinkly skin syndrome (WSS), and geroderma osteodysplastica (GO; see these terms).
Histological examination of skin biopsies from DBS patients may reveal characteristic frayed and reduced elastic fibers but patients with normal skin biopsy results have also been reported.
The eye anomalies, athetoid movements and hyperreflexia are distinguishing features of DBS that usually allow this syndrome to be differentiated from GO, ARCL2 and WSS.
The condition is transmitted in an autosomal recessive manner.
Management and treatment
Treatment is symptomatic, including early eye-surgery and physiotherapy to avoid contractures.
Patients with DBS have variable outcomes. Some patients die in childhood due to severe neurological dysfunction and intercurrent infections. Many patients diagnosed with PYCR1 mutations show a spontaneous improvement of the progerioid features, and in some children the movement disorder remain non-progressive.