Lethal brain and heart developmental defects
A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by early intrauterine growth retardation generalized edema craniofacial dysmorphism (such as microcephaly brachycephaly frontal bossing hypertelorism short palpebral fissures or absent nasal bone) cerebellar hypoplasia sex reversal in male fetuses congenital heart defects (including septal and valve defects and cardiomegaly) and late fetal loss.
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 September 2023.
Newly diagnosed with
Lethal brain and heart developmental defects?
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Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.