white forelock with malformations
Findings
No curated finding names white forelock with malformations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
Definition from the Mondo Disease Ontology (MONDO:0010199), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Abnormal palate morphologyHPOHP:0000174
- Very frequent (80% to 99% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
- Blue scleraeHPOHP:0000592
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Deep philtrumHPOHP:0002002
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- White forelockHPOHP:0002211
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Spina bifida occultaHPOHP:0003298
- Frequent (30% to 79% of cases)
- Sprengel anomalyHPOHP:0000912
- Frequent (30% to 79% of cases)