Lethal polymalformative syndrome, Boissel type

Get in touch with RARE Concierge.

Contact RARE Concierge

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 May 2024

Newly diagnosed with
Lethal polymalformative syndrome, Boissel type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.