GTR Home > Conditions/Phenotypes > Rothmund-Thomson syndrome

Disease characteristics

Excerpted from the GeneReview: Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include dysplasias, absent or malformed bones (such as absent radii), osteopenia, and delayed bone formation.

Associated genes

Clinical features

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  • Alopecia
  • Pyloric stenosis
  • Anemia
  • Premature graying of hair
  • Short stature
  • Hypertension
  • Small hand
  • Short foot
  • Abnormality of the genital system
  • Epicanthus
  • Hypopigmented skin patches
  • Talipes equinovarus
  • Intellectual disability
  • Arthrogryposis multiplex congenita
  • Microcephaly
  • Aplasia/Hypoplasia of the eyebrow
  • Juvenile zonular cataracts
  • Forearm reduction defects
  • Craniosynostosis
  • Microdontia
  • Anteriorly placed anus
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Irregular hyperpigmentation
  • Short philtrum
  • Delayed eruption of teeth
  • Micrognathia
  • Carious teeth
  • Cataract
  • Glaucoma
  • Dry skin
  • Myelodysplasia
  • Malabsorption
  • Telangiectasia
  • Strabismus
  • Reduced bone mineral density
  • Aplasia/Hypoplasia of the radius
  • Osteoporosis
  • Cryptorchidism
  • Nephropathy
  • Hypogonadism
  • Oral cleft
  • Mandibular prognathia
  • Hypertelorism
  • Sensorineural hearing impairment
  • Microcornea
  • Deeply set eye
  • Ptosis
  • Microphthalmos
  • Abnormality of the adrenal glands
  • Hyperkeratosis
  • Cutis marmorata
  • Cutaneous photosensitivity
  • Poikiloderma
  • Abnormality of the metacarpal bones
  • Abnormality of the fingernails
  • Joint dislocation
  • Congenital hip dislocation
  • Limitation of joint mobility
  • Joint hypermobility
  • Abnormality of the nail
  • Annular pancreas
  • Abnormality of neutrophils
  • Frontal bossing
  • Nausea and vomiting
  • Abnormality of the bronchi
  • Scoliosis
  • Osteosarcoma
  • Basal cell carcinoma
  • Kyphoscoliosis
  • Squamous cell carcinoma
  • Abnormality of the ulna
  • Short nose
  • Abnormality of the hip bone
  • Short palm
  • Dermal atrophy
  • Abnormality of the sacrum
  • Agenesis of permanent teeth
  • Patellar aplasia
  • Neoplasm of the stomach
  • Aplasia/Hypoplasia of the skin
  • Abnormal blistering of the skin
  • Neoplasm of the skin
  • Sparse hair
  • External ear malformation
  • Aplasia/Hypoplasia of the thumb
  • Short thumb
  • Reduced number of teeth
  • Abnormal immunoglobulin level
  • Increased number of teeth
  • Sarcoma
  • Decreased corneal thickness
  • Skin ulcer
  • Abnormal hair quantity
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