Potocki-Shaffer syndrome
Findings
No curated finding names Potocki-Shaffer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
Definition from the Mondo Disease Ontology (MONDO:0011022), read 2026-09-29. CC BY 4.0.
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Multiple exostosesHPOHP:0002762
- 10 of 10 reported patients
- Downturned corners of mouthHPOHP:0002714
- 8 of 9 reported patients
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- Single transverse palmar creaseHPOHP:0000954
- 5 of 6 reported patients
- Parietal foraminaHPOHP:0002697
- 9 of 11 reported patients
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- 6 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Decreased skull ossificationHPOHP:0004331
- Very frequent (80% to 99% of cases)
- Depressed nasal tipHPOHP:0000437
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- 4 of 9 reported patients
- Very frequent (80% to 99% of cases)
- ExostosesHPOHP:0100777
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 26
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 7 of 10 reported patients
- Occasional (5% to 29% of cases)
- Short philtrumHPOHP:0000322
- 6 of 9 reported patients
- Frequent (30% to 79% of cases)
- Sparse lateral eyebrowHPOHP:0005338
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHF21AHGNC:24156
- Strong · G2P · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: Potocki-Shaffer syndrome
- Also called
- 11p11.2 deletionproximal 11p deletion syndrome