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Excessive wrinkled skin

MedGen UID:
870444
Concept ID:
C4024890
Anatomical Abnormality; Finding
HPO: HP:0007392

Conditions with this feature

Ehlers-Danlos syndrome, kyphoscoliotic type 1
MedGen UID:
75672
Concept ID:
C0268342
Disease or Syndrome
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive generalized connective tissue disorder characterized by hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility in association with skin fragility and ocular abnormality. Intelligence is normal. Life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries. Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure.
Cutis laxa with osteodystrophy
MedGen UID:
82795
Concept ID:
C0268355
Disease or Syndrome
ATP6V0A2-related cutis laxa is characterized by generalized cutis laxa, findings associated with generalized connective tissue disorder, developmental delays, and a variety of neurologic findings including abnormality on brain MRI. At birth, hypotonia, overfolded skin, and distinctive facial features are present and enlarged fontanelles are often observed. During childhood, the characteristic facial features and thick or coarse hair may become quite pronounced. The skin findings decrease with age, although easy bruising and Ehlers-Danlos-like scars have been described in some. In most (not all) affected individuals, cortical and cerebellar malformations are observed on brain MRI. Nearly all affected individuals have developmental delays, seizures, and neurologic regression.
Nicolaides-Baraitser syndrome
MedGen UID:
220983
Concept ID:
C1303073
Disease or Syndrome
Nicolaides-Baraitser syndrome (NCBRS) is characterized by sparse scalp hair, prominence of the inter-phalangeal joints and distal phalanges due to decreased subcutaneous fat, characteristic coarse facial features, microcephaly, seizures, and developmental delay / intellectual disability. Seizures are of various types and can be difficult to manage. Developmental delay / intellectual disability (ID) is severe in nearly a half, moderate in a third, and mild in the remainder. Nearly a third never develop speech or language skills.
Autosomal recessive cutis laxa type 2B
MedGen UID:
414526
Concept ID:
C2751987
Disease or Syndrome
The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities (summary by Morava et al., 2009). No specific clinical features distinguish ARCL2A (219200), which includes a glycosylation defect, and ARCL2B, in which abnormal glycosylation has not been reported (Morava et al., 2009; Guernsey et al., 2009). For a phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).
COG7 congenital disorder of glycosylation
MedGen UID:
419311
Concept ID:
C2931010
Disease or Syndrome
CDG IIe is caused by a mutation that impairs the integrity of the conserved oligomeric Golgi (COG) complex and alters Golgi trafficking, resulting in the disruption of multiple glycosylation pathways. For a general discussion of CDGs, see CDG1A (212065).
PYCR1-related de Barsy syndrome
MedGen UID:
482429
Concept ID:
C3280799
Disease or Syndrome
De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011). For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see 219150. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219200.
Tessadori-Van Haaften neurodevelopmental syndrome 3
MedGen UID:
1824083
Concept ID:
C5774310
Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-3 (TEBIVANED3) is characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. More variable features include hypotonia, microcephaly, and dysmorphic facies. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022). For a discussion of genetic heterogeneity of Tessadori-Bicknell-van Haaften neurodevelopmental disorder, see TEBIVANED1 (619758).

Professional guidelines

PubMed

Sundaram H, Signorini M, Liew S, Trindade de Almeida AR, Wu Y, Vieira Braz A, Fagien S, Goodman GJ, Monheit G, Raspaldo H; Global Aesthetics Consensus Group
Plast Reconstr Surg 2016 Mar;137(3):518e-529e. doi: 10.1097/01.prs.0000475758.63709.23. PMID: 26910696Free PMC Article
Ando H, Matsui MS, Ichihashi M
Int J Mol Sci 2010 Jun 18;11(6):2566-75. doi: 10.3390/ijms11062566. PMID: 20640168Free PMC Article
Stratigos AJ, Katsambas AD
Drugs 2005;65(8):1061-72. doi: 10.2165/00003495-200565080-00003. PMID: 15907143

Recent clinical studies

Diagnosis

AbuBakr F, Jeffries L, Ji W, McGrath JM, Lakhani SA
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a005207. PMID: 32299812Free PMC Article
Chung B, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D
Am J Med Genet A 2012 Oct;158A(10):2373-81. Epub 2012 Sep 10 doi: 10.1002/ajmg.a.35570. PMID: 22965799

Prognosis

Chung B, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D
Am J Med Genet A 2012 Oct;158A(10):2373-81. Epub 2012 Sep 10 doi: 10.1002/ajmg.a.35570. PMID: 22965799

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