Pilotto syndrome
MONDO:0017331Pilotto 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.
Also known as: cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability, cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation
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