Primordial growth failure with slender bones and normal intelligence.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- CCDC8, CUL7, OBSL1
- Alternative names & eponyms
- Three-M syndrome
Etiology & mechanism
Ubiquitin ligase complex defects.
Gene(s) involved (3)
Symptoms & signs (6)
In plain terms, someone with 3M 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
Maroteaux–Lamy syndrome
normal intelligence, 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
Costello syndrome
short stature
1 shared
Diamond–Blackfan anemia
short stature
1 shared
Fanconi anemia
short stature
Shares genes with
None.
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