Endocrinology · Endocrinology / Bone and mineral disorders
Hajdu–Cheney syndrome
also: Acro-osteolysis syndrome
Acro-osteolysis, osteoporosis and distinctive facies.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Bone and mineral disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- NOTCH2
- Alternative names & eponyms
- Acro-osteolysis syndrome
Etiology & mechanism
NOTCH2 truncating variants.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Hajdu–Cheney 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
3 shared
Hunter syndrome
coarse facies, hearing loss, short stature
2 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies, short stature
2 shared
Coffin–Lowry syndrome
coarse facies, short stature
2 shared
Costello syndrome
coarse facies, short stature
2 shared
Hurler syndrome
coarse facies, hearing loss
2 shared
Marshall syndrome
hearing loss, short stature
2 shared
MERRF syndrome
hearing loss, short stature
2 shared
Nicolaides–Baraitser syndrome
coarse facies, short stature
2 shared
Resistance to thyroid hormone
hearing loss, short stature
2 shared
Smith–Magenis syndrome
hearing loss, short stature
Shares genes with
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