macrosomia-microphthalmia-cleft palate syndrome
Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
Teebi Al-Saleh Hassoon syndrome
related
Teebi-Al Saleh-Hassoon syndrome
exact
macrosomia microphthalmia cleft palate
related
macrosomia with lethal microphthalmia
related