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. [ Orphanet:2894 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0004368 (MONDO:equivalentTo)
  • MESH:C537400 (Orphanet:2894)
  • UMLS:C2931484 (Orphanet:2894)
  • Orphanet:2894 (MONDO:equivalentObsolete)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation [ GARD:0004368 ]

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.

exactMatch

http://identifiers.org/mesh/C537400

http://linkedlifedata.com/resource/umls/id/C2931484

http://www.orpha.net/ORDO/Orphanet_2894

has related synonym

cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation

cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability

id

MONDO:0017331

seeAlso

https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome

Term relations