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Rothmund-Thomson syndrome(RTS)

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Synonyms: Poikiloderma Congenitale; Poikiloderma of Rothmund-Thomson; RTS
SNOMED CT: Rothmund-Thomson syndrome (69093006); Poikiloderma congenitale syndrome (69093006); Poikiloderma congenitale (69093006)
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).
 
Monarch Initiative: MONDO:0010002
OMIM®: 268400; 618625
OMIM® Phenotypic series: PS268400
Orphanet: ORPHA2909

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 MedlinePlus Genetics
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma.

Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and eyelashes; slow growth and small stature; abnormalities of the teeth and nails; and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. Some affected children develop a clouding of the lens of the eye (cataract), which affects vision. Many people with this disorder have skeletal abnormalities including absent or malformed bones, fused bones, and low bone mineral density (osteopenia or osteoporosis). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are known as radial ray malformations.

People with Rothmund-Thomson syndrome have an increased risk of developing cancer, particularly a form of bone cancer called osteosarcoma. These bone tumors most often develop during childhood or adolescence. Several types of skin cancer, including basal cell carcinoma and squamous cell carcinoma, are also more common in people with this disorder.

The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.  https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRothmund-Thomson syndrome
Follow this link to review classifications for Rothmund-Thomson syndrome in Orphanet.

Professional guidelines

PubMed

Larizza L, Roversi G, Verloes A
Eur J Hum Genet 2013 Jul;21(7) Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.260. PMID: 23188052Free PMC Article
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Suggested Reading

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Etiology

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Diagnosis

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Therapy

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Pediatr Clin North Am 1983 Aug;30(4):687-99. doi: 10.1016/s0031-3955(16)34434-0. PMID: 6351001

Prognosis

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Clinical prediction guides

Kaneko H, Takemoto M, Murakami H, Ihara K, Kosaki R, Motegi SI, Taniguchi A, Matsuo M, Yamazaki N, Nishigori C, Takita J, Koshizaka M, Maezawa Y, Yokote K
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Ottaviani G, Jaffe N
Cancer Treat Res 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2. PMID: 20213384
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Kellermayer R
Genet Med 2006 Apr;8(4):213-6. doi: 10.1097/01.gim.0000214457.58378.1a. PMID: 16617241

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