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trigonocephaly-broad thumbs syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018064

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. [ Orphanet:3365 ]

Term info

database cross reference
  • GARD:0002756 (MONDO:equivalentTo)
  • SCTID:719949001 (MONDO:equivalentTo)
  • Orphanet:3365 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

definition

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_3365, http://identifiers.org/snomedct/719949001

has exact synonym

Hunter-Rudd-Hoffmann syndrome

has related synonym

Hunter Rudd Hoffmann syndrome

id

MONDO:0018064

Term relations