Pilotto syndrome
Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975.
MONDO:0003847
hereditary disease
is_a
cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability
related
cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation
related