Pilotto syndrome
Findings
No curated finding names Pilotto syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017331), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of