craniofrontonasal dysplasia-Poland anomaly syndrome
MONDO:0015464Mondo
Findings
No curated finding names craniofrontonasal dysplasia-Poland anomaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.
Definition from the Mondo Disease Ontology (MONDO:0015464), read 2026-09-29. CC BY 4.0.
Features
26 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.
- Aplasia/Hypoplasia involving bones of the skullHPOHP:0009116
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Midline nasal grooveHPOHP:0004112
- Very frequent (80% to 99% of cases)
- Wide noseHPOHP:0000445
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormal reproductive system morphologyHPOHP:0012243
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia involving the shoulder musculatureHPOHP:0001464
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- Frequent (30% to 79% of cases)
- Asymmetry of the naresHPOHP:0009930
- Frequent (30% to 79% of cases)
- Bifid uterusHPOHP:0000136
- Frequent (30% to 79% of cases)
Show the remaining 14
- Diastasis rectiHPOHP:0001540
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Low posterior hairlineHPOHP:0002162
- Frequent (30% to 79% of cases)
- PlagiocephalyHPOHP:0001357
- Frequent (30% to 79% of cases)
- Short lingual frenulumHPOHP:0000200
- Frequent (30% to 79% of cases)
- Sparse eyebrowHPOHP:0045075
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: craniofrontonasal dysplasia-Poland anomaly syndrome
- Also called
- Webster-Deming syndrome