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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

Etiology

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

Diagnosis

Adès LC
Clin Dysmorphol 2008 Oct;17(4):243-8. doi: 10.1097/MCD.0b013e328303e5d3. PMID: 18978651

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

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