U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Redundant skin in infancy

MedGen UID:
322692
Concept ID:
C1835587
Finding
Synonym: Excess skin in infancy
 
HPO: HP:0007595

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRedundant skin in infancy

Conditions with this feature

Langer-Giedion syndrome
MedGen UID:
6009
Concept ID:
C0023003
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.

Professional guidelines

PubMed

Low DW
Facial Plast Surg 2003 Feb;19(1):113-30. doi: 10.1055/s-2003-39131. PMID: 12739187

Recent clinical studies

Prognosis

Baselga E, Roe E, Coulie J, Muñoz FZ, Boon LM, McCuaig C, Hernandez-Martín A, Gich I, Puig L
JAMA Dermatol 2016 Nov 1;152(11):1239-1243. doi: 10.1001/jamadermatol.2016.2905. PMID: 27540637
Adès LC
Clin Dysmorphol 2008 Oct;17(4):243-8. doi: 10.1097/MCD.0b013e328303e5d3. PMID: 18978651
Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R
Am J Med Genet 1995 Nov 20;59(3):329-33. doi: 10.1002/ajmg.1320590310. PMID: 8599356

Clinical prediction guides

Baselga E, Roe E, Coulie J, Muñoz FZ, Boon LM, McCuaig C, Hernandez-Martín A, Gich I, Puig L
JAMA Dermatol 2016 Nov 1;152(11):1239-1243. doi: 10.1001/jamadermatol.2016.2905. PMID: 27540637
Siegel DH, Mann JA, Krol AL, Rauen KA
Br J Dermatol 2012 Mar;166(3):601-7. doi: 10.1111/j.1365-2133.2011.10744.x. PMID: 22098123Free PMC Article
Adès LC
Clin Dysmorphol 2008 Oct;17(4):243-8. doi: 10.1097/MCD.0b013e328303e5d3. PMID: 18978651

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...