Lethal brain and heart developmental defects
ORPHA:580933· ICD-10 Q87.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal