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Goodman syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008711

Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. [ Orphanet:65798 ]

Term info

database cross reference
  • OMIM:201020 (Orphanet:65798/e)
  • MESH:C537287 (MONDO:equivalentTo)
  • GARD:0002549 (MONDO:equivalentTo)
  • Orphanet:65798 (OMIM:201020)
  • SCTID:720600004 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
ACPS4 [ Orphanet:65798 ]

definition

Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.

exactMatch

https://omim.org/entry/201020, http://purl.obolibrary.org/obo/Orphanet_65798, http://identifiers.org/mesh/C537287, http://identifiers.org/snomedct/720600004

has exact synonym

acrocephalopolysyndactyly type 4, ACPS 4, Goodman syndrome, ACPS4

has related synonym

Goodman camptodactyly, acrocephalopolysyndactyly type IV

id

MONDO:0008711

seeAlso

https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome