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Metageria

MedGen UID:
96063
Concept ID:
C0406584
Disease or Syndrome
Synonyms: Acrogeria; Acrogeria, Gottron type; Acrometageria; Familial acrogeria; Gottron syndrome
SNOMED CT: Metageria (238871000)
 
Monarch Initiative: MONDO:0008716
OMIM®: 201200
Orphanet: ORPHA2500

Definition

A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetageria
Follow this link to review classifications for Metageria in Orphanet.

Recent clinical studies

Etiology

Hunzelmann N, Ueberham U, Eckes B, Herrmann K, Krieg T
Biochim Biophys Acta 1997 Feb 27;1360(1):64-70. doi: 10.1016/s0925-4439(96)00067-1. PMID: 9061041

Diagnosis

Greally JM, Boone LY, Lenkey SG, Wenger SL, Steele MW
Am J Med Genet 1992 Oct 1;44(3):334-9. doi: 10.1002/ajmg.1320440313. PMID: 1488981
Gilkes JJ, Sharvill DE, Wells RS
Br J Dermatol 1974 Sep;91(3):243-62. doi: 10.1111/j.1365-2133.1974.tb12893.x. PMID: 4447659

Clinical prediction guides

Hunzelmann N, Ueberham U, Eckes B, Herrmann K, Krieg T
Biochim Biophys Acta 1997 Feb 27;1360(1):64-70. doi: 10.1016/s0925-4439(96)00067-1. PMID: 9061041
Greally JM, Boone LY, Lenkey SG, Wenger SL, Steele MW
Am J Med Genet 1992 Oct 1;44(3):334-9. doi: 10.1002/ajmg.1320440313. PMID: 1488981

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