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pseudoleprechaunism syndrome, Patterson type

^ http://purl.obolibrary.org/obo/MONDO_0008211

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. [ Orphanet:2976 ]

Term info

database cross reference
  • MESH:C536310 (Orphanet:2976/e)
  • Orphanet:2976 (OMIM:169170)
  • GARD:0004259 (MONDO:equivalentTo)
  • OMIM:169170 (Orphanet:2976/e)
  • UMLS:C1868546 (Orphanet:2976/e)
Subsets

ordo_malformation_syndrome

definition

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_2976, https://omim.org/entry/169170, http://linkedlifedata.com/resource/umls/id/C1868546, http://identifiers.org/mesh/C536310

has exact synonym

Patterson syndrome

has related synonym

Patterson pseudoleprechaunism syndrome, Patterson's leprechaunoid syndrome

id

MONDO:0008211

Term relations