Endocrinology · Endocrinology / Pediatric endocrinology
Turner syndrome
also: 45,X; Ullrich–Turner syndrome
Complete or partial absence of one X chromosome in females with short stature and ovarian failure.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: not applicable; Female: affected only; Children: yes, diagnosed in infancy to adolescence
- Gene(s) involved
- SHOX
- Alternative names & eponyms
- 45,X; Ullrich–Turner syndrome
Etiology & mechanism
X chromosome monosomy or mosaicism.
Gene(s) involved (1)
Symptoms & signs (12)
In plain terms, someone with Turner 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.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
4 shared
Turner syndrome cardiovascular disease
lymphedema, primary amenorrhea, short stature, webbed neck
2 shared
Duane-radial ray syndrome
hearing loss, renal anomalies
2 shared
Fanconi anemia
renal anomalies, short stature
2 shared
Floating-Harbor syndrome
low hairline, short stature
2 shared
Hajdu–Cheney syndrome
hearing loss, short stature
2 shared
Hunter syndrome
hearing loss, short stature
2 shared
Kallmann syndrome
hearing loss, primary amenorrhea
2 shared
Marshall syndrome
hearing loss, short stature
2 shared
Mayer–Rokitansky–Küster–Hauser syndrome
primary amenorrhea, renal anomalies
2 shared
MERRF syndrome
hearing loss, short stature
Loading…
Loading…