Endocrinology · Endocrinology / Pediatric endocrinology
SHORT syndrome
also: Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, teething delay
Syndrome with insulin resistance and distinctive facies.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- PIK3R1
- Alternative names & eponyms
- Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, teething delay
Etiology & mechanism
PIK3R1 variants reduce PI3K signaling.
Gene(s) involved (1)
Symptoms & signs (10)
In plain terms, someone with SHORT 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
2 shared
Familial partial lipodystrophy
diabetes, insulin resistance
2 shared
Floating-Harbor syndrome
short stature, triangular face
2 shared
MELAS syndrome
diabetes, short stature
2 shared
Silver–Russell syndrome
short stature, triangular face
2 shared
Werner syndrome
diabetes, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Bardet–Biedl syndrome
diabetes
1 shared
Bloom syndrome
short stature
Shares genes with
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