Poikiloderma with skeletal anomalies and cancer predisposition.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Genodermatoses
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, rash from 3–6 months
- Gene(s) involved
- ANAPC1, RECQL4
- Alternative names & eponyms
- Poikiloderma congenitale
Etiology & mechanism
Defective RECQL4 helicase function causing genomic instability.
Gene(s) involved (2)
Symptoms & signs (7)
In plain terms, someone with Rothmund–Thomson syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Kindler syndrome
photosensitivity, poikiloderma
2 shared
Nicolaides–Baraitser syndrome
short stature, sparse hair
2 shared
Werner syndrome
cataracts, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
1 shared
Cardiofaciocutaneous syndrome
sparse hair
Shares genes with
None.
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