Lethal polymalformative syndrome, Boissel type
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive severe developmental delay severe postanatal microcephaly frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils thin vermillion prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia sensorineural deafness hydrocephalus cerebral atrophy seizures) as well as brachydactyly cutis marmorata and genital anomalies.
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 April 2024
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Lethal polymalformative syndrome, Boissel type?
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