U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Rothmund-Thomson syndrome type 1(RTS1)

MedGen UID:
1684764
Concept ID:
C5231433
Disease or Syndrome
Synonyms: POIKILODERMA ATROPHICANS AND CATARACT; RTS1
SNOMED CT: Rothmund Thomson syndrome type 1 (1003922004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ANAPC1 (2q13)
 
Monarch Initiative: MONDO:0016368
OMIM®: 618625
Orphanet: ORPHA221008

Disease characteristics

Excerpted from the GeneReview: Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by a rash that progresses to poikiloderma; sparse hair, eyelashes, and/or eyebrows; small size; skeletal and dental abnormalities; juvenile cataracts; and an increased risk for cancer, especially osteosarcoma. A variety of benign and malignant hematologic abnormalities have been reported in affected individuals. The rash of RTS typically develops between ages three and six months (occasionally as late as age two years) as erythema, swelling, and blistering on the face, subsequently spreading to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, telangiectasias, and punctate atrophy (collectively known as poikiloderma) that persist throughout life. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities can include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia. [from GeneReviews]
Authors:
Lisa L Wang  |  Sharon E Plon   view full author information

Additional description

From OMIM
Rothmund-Thomson syndrome type 1 (RTS1) is an autosomal recessive disorder characterized by poikiloderma, sparse hair, and bilateral juvenile cataracts. Patients may also have growth retardation and genital, skeletal, and dental abnormalities. The disorder is not associated with an increased risk of cancer (summary by Ajeawung et al., 2019). For a discussion of genetic heterogeneity of Rothmund-Thomson syndrome, see RTS2 (268400).  http://www.omim.org/entry/618625

Clinical features

From HPO
Premature ovarian insufficiency
MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Conical tooth
MedGen UID:
82730
Concept ID:
C0266037
Congenital Abnormality
An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Absent eyebrow
MedGen UID:
98133
Concept ID:
C0431448
Congenital Abnormality
Absence of the eyebrow.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Poikiloderma
MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Thin nail
MedGen UID:
98073
Concept ID:
C0423823
Finding
Nail that appears thin when viewed on end.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Absent eyelashes
MedGen UID:
334299
Concept ID:
C1843005
Congenital Abnormality
Lack of eyelashes.
Abnormal blistering of the skin
MedGen UID:
412159
Concept ID:
C2132198
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Male hypogonadism
MedGen UID:
57480
Concept ID:
C0151721
Disease or Syndrome
Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).
Juvenile cataract
MedGen UID:
137062
Concept ID:
C0302254
Anatomical Abnormality
A type of cataract that is not apparent at birth but that arises in childhood or adolescence.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRothmund-Thomson syndrome type 1

Suggested Reading

Recent clinical studies

Etiology

Lorenzo C, Travessa AM, Ferreira AC, Modamio-Høybjør S, Heath KE, Pereira C
Am J Med Genet A 2023 Jan;191(1):280-283. Epub 2022 Sep 26 doi: 10.1002/ajmg.a.62980. PMID: 36164748
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. PMID: 21872685
Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL
Hum Genet 2008 Jul;123(6):643-53. Epub 2008 May 27 doi: 10.1007/s00439-008-0518-4. PMID: 18504617Free PMC Article

Diagnosis

Tadros S, Forde K, Syed S, Gholam K, Hurst J
Clin Dysmorphol 2021 Jan;30(1):50-53. doi: 10.1097/MCD.0000000000000332. PMID: 32897901
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. PMID: 21872685
Jin W, Liu H, Zhang Y, Otta SK, Plon SE, Wang LL
Hum Genet 2008 Jul;123(6):643-53. Epub 2008 May 27 doi: 10.1007/s00439-008-0518-4. PMID: 18504617Free PMC Article
Wiebe CB, Larjava HS
Arch Dermatol Res 1999 Jan;291(1):6-13. doi: 10.1007/s004030050377. PMID: 10025722
Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T
Arch Dermatol 1997 Sep;133(9):1111-7. PMID: 9301588

Prognosis

Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L
Am J Hum Genet 2010 Jan;86(1):72-6. Epub 2009 Dec 10 doi: 10.1016/j.ajhg.2009.11.014. PMID: 20004881Free PMC Article
Ogden GR, Chisholm DM, Leigh IM, Lane EB
J Oral Pathol Med 1992 Sep;21(8):353-7. doi: 10.1111/j.1600-0714.1992.tb01364.x. PMID: 1383502

Clinical prediction guides

Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. PMID: 21872685
Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L
Am J Hum Genet 2010 Jan;86(1):72-6. Epub 2009 Dec 10 doi: 10.1016/j.ajhg.2009.11.014. PMID: 20004881Free PMC Article
Abrahams PJ, Houweling A, Schouten R, van der Eb AJ, Terleth C
DNA Repair (Amst) 2003 Nov 21;2(11):1211-25. doi: 10.1016/s1568-7864(03)00141-1. PMID: 14599743
Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T
Arch Dermatol 1997 Sep;133(9):1111-7. PMID: 9301588
Tokunaga M, Wakamatsu E, Yosizawa Z
Tohoku J Exp Med 1979 May;128(1):71-9. doi: 10.1620/tjem.128.71. PMID: 287216

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...