Endocrinology · Endocrinology / Pediatric endocrinology
Meier–Gorlin syndrome
also: Ear–patella–short stature syndrome
Primordial dwarfism with microtia and absent patellae.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- CDC45, CDC6, CDT1, GMNN, MCM5, ORC1, ORC4, ORC6
- Alternative names & eponyms
- Ear–patella–short stature syndrome
Etiology & mechanism
DNA replication licensing defects.
Gene(s) involved (8)
Symptoms & signs (6)
In plain terms, someone with Meier–Gorlin 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
Fanconi anemia
microcephaly, short stature
2 shared
Rubinstein–Taybi syndrome
microcephaly, short stature
1 shared
3M syndrome
short stature
1 shared
Aarskog–Scott syndrome
short stature
1 shared
Aicardi–Goutières syndrome
microcephaly
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Angelman syndrome
microcephaly
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
Shares genes with
None.
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