Genetics · Genetics / Chromosomal disorders
Potocki–Shaffer syndrome
also: 11p11.2 deletion syndrome
Contiguous deletion causing multiple exostoses and parietal foramina.
- Specialty
- Genetics
- Subspecialty
- Genetics / Chromosomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- ALX4, EXT2, PHF21A
- Alternative names & eponyms
- 11p11.2 deletion syndrome
Etiology & mechanism
Deletion of EXT2 and ALX4.
Gene(s) involved (3)
Symptoms & signs (5)
In plain terms, someone with Potocki–Shaffer 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
Apert syndrome
intellectual disability, syndactyly
2 shared
Langer–Giedion syndrome
intellectual disability, multiple exostoses
2 shared
Orofaciodigital syndrome type 1
intellectual disability, syndactyly
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
1 shared
Börjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Borjeson–Forssman–Lehmann syndrome
intellectual disability
1 shared
Cardiofaciocutaneous syndrome
intellectual disability
1 shared
Coffin–Lowry syndrome
intellectual disability
1 shared
Coffin–Siris syndrome
intellectual disability
Shares genes with
Loading…
Loading…