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Prematurely aged appearance

MedGen UID:
346633
Concept ID:
C1857656
Finding
Synonym: Precociously senile appearance
 
HPO: HP:0007495

Conditions with this feature

Werner syndrome
MedGen UID:
12147
Concept ID:
C0043119
Disease or Syndrome
Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.
Neonatal pseudo-hydrocephalic progeroid syndrome
MedGen UID:
140806
Concept ID:
C0406586
Disease or Syndrome
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).
Cockayne syndrome type 2
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
XFE progeroid syndrome
MedGen UID:
410064
Concept ID:
C1970416
Disease or Syndrome
An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.
Fontaine progeroid syndrome
MedGen UID:
394125
Concept ID:
C2676780
Disease or Syndrome
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin, and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. To date, 13 individuals with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome have been described.
Ogden syndrome
MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015).
Cutis laxa, autosomal dominant 1
MedGen UID:
478169
Concept ID:
C3276539
Disease or Syndrome
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.
Ehlers-Danlos syndrome, classic-like, 2
MedGen UID:
1632001
Concept ID:
C4693870
Disease or Syndrome
Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). See 606408 for another classic-like EDS syndrome. For a discussion of the classification of EDS, see 130000.
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

Ladjouze A, Donaldson M, Plotton I, Djenane N, Mohammedi K, Tardy-Guidollet V, Mallet D, Boulesnane K, Bouzerar Z, Morel Y, Roucher-Boulez F
Front Endocrinol (Lausanne) 2022;13:867073. Epub 2022 Jun 10 doi: 10.3389/fendo.2022.867073. PMID: 35757411Free PMC Article
Rajeshuni N, Zubair T, Ludwig CA, Moshfeghi DM, Mruthyunjaya P
JAMA Ophthalmol 2020 Aug 1;138(8):876-884. doi: 10.1001/jamaophthalmol.2020.2254. PMID: 32614376Free PMC Article
Wiesner RH, Ludwig J, LaRusso NF, MacCarty RL
Semin Liver Dis 1985 Aug;5(3):241-53. doi: 10.1055/s-2008-1040621. PMID: 3901273

Recent clinical studies

Etiology

Okuneva EG, Kozina AA, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Ilinsky VV
BMC Dermatol 2019 Jan 31;19(1):4. doi: 10.1186/s12895-019-0084-6. PMID: 30704477Free PMC Article

Diagnosis

Krarup NT, Hvidbjerg M, Zaremba T, Sommerlund M, Christensen MK
Am J Med Genet A 2023 Apr;191(4):1059-1064. Epub 2022 Dec 21 doi: 10.1002/ajmg.a.63095. PMID: 36541930
Nédélec A, Guérit EM, Dachy G, Lenglez S, Wong LS, Arts FA, Demoulin JB
J Cell Mol Med 2022 Jul;26(14):3902-3912. Epub 2022 Jun 10 doi: 10.1111/jcmm.17427. PMID: 35689379Free PMC Article
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM Jr, Roé E, Baselga E
Am J Med Genet A 2022 Apr;188(4):1233-1238. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62603. PMID: 34894066
Okuneva EG, Kozina AA, Baryshnikova NV, Krasnenko AY, Tsukanov KY, Klimchuk OI, Surkova EI, Ilinsky VV
BMC Dermatol 2019 Jan 31;19(1):4. doi: 10.1186/s12895-019-0084-6. PMID: 30704477Free PMC Article
Machino H, Miki Y, Teramoto T, Shiraishi S, Sasaki MS
Br J Dermatol 1984 Nov;111(5):579-86. doi: 10.1111/j.1365-2133.1984.tb06628.x. PMID: 6498091

Therapy

Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM Jr, Roé E, Baselga E
Am J Med Genet A 2022 Apr;188(4):1233-1238. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62603. PMID: 34894066
Kotrajaras R, Kligman AM
Br J Dermatol 1993 Sep;129(3):302-9. doi: 10.1111/j.1365-2133.1993.tb11851.x. PMID: 8286229

Clinical prediction guides

Nédélec A, Guérit EM, Dachy G, Lenglez S, Wong LS, Arts FA, Demoulin JB
J Cell Mol Med 2022 Jul;26(14):3902-3912. Epub 2022 Jun 10 doi: 10.1111/jcmm.17427. PMID: 35689379Free PMC Article
Iznardo H, Bredrup C, Bernal S, Gladkauskas T, Mascaró JM Jr, Roé E, Baselga E
Am J Med Genet A 2022 Apr;188(4):1233-1238. Epub 2021 Dec 11 doi: 10.1002/ajmg.a.62603. PMID: 34894066
Hoki Y, Araki R, Fujimori A, Ohhata T, Koseki H, Fukumura R, Nakamura M, Takahashi H, Noda Y, Kito S, Abe M
Hum Mol Genet 2003 Sep 15;12(18):2293-9. Epub 2003 Jul 29 doi: 10.1093/hmg/ddg254. PMID: 12915449
Sadakane Y, Maeda K, Kuroda Y, Hori K
Biochem Biophys Res Commun 1994 Apr 15;200(1):219-25. doi: 10.1006/bbrc.1994.1437. PMID: 7545922

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