Sparse hair, pear-shaped nose and cone-shaped epiphyses.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Hair disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, features visible in childhood
- Gene(s) involved
- TRPS1, TRPS2
- Alternative names & eponyms
- TRPS type I-III
Etiology & mechanism
TRPS1 haploinsufficiency affecting chondrocyte and hair follicle development.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Trichorhinophalangeal 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
Langer–Giedion syndrome
cone-shaped epiphyses, pear-shaped nose
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
Coffin–Lowry syndrome
short stature
1 shared
Coffin–Siris syndrome
sparse scalp hair
1 shared
Costello syndrome
short stature
Shares genes with
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