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upper limb mesomelic dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0008620

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. [ Orphanet:2497 ]

Term info

database cross reference
  • OMIM:191440 (Orphanet:2497/e)
  • MESH:C538069 (MONDO:equivalentTo)
  • GARD:0002408 (MONDO:equivalentTo)
  • Orphanet:2497 (OMIM:191440)
Subsets

ordo_malformation_syndrome

definition

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2497, https://omim.org/entry/191440, http://identifiers.org/mesh/C538069

has exact synonym

Fryns-Hofkens-Fabry syndrome, upper limb mesomelic dysplasia

has related synonym

ulna hypoplasia, Fryns Hofkens Fabry syndrome, ulnar hypoplasia

id

MONDO:0008620

Term relations