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Scalp-ear-nipple syndrome: additional manifestations
M J Edwards1, D McDonald, P Moore
1Newcastle and Northern New South Wales Genetics Service, Tamworth Base Hospital and Health Service, Australia.
American Journal of Medical Genetics
|April 15, 1994
Summary
Scalp-ear-nipple (SEN) syndrome is a rare genetic disorder affecting scalp, ears, and nipples. This study describes a new family with SEN syndrome, detailing its varied clinical manifestations.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Scalp-ear-nipple (SEN) syndrome is a rare autosomal dominant disorder.
- It is characterized by congenital scalp defects, ear malformations, and nipple hypoplasia.
Observation:
- A new family with SEN syndrome presented with significant breast aplasia in affected women.
- Observed dental anomalies, including widely spaced or missing teeth.
- Noted characteristic ear deformities, reduced axillary sweat and hair, brittle nails, and syndactyly.
Findings:
- The fifth described family with SEN syndrome exhibits variable expressivity, particularly in breast and nipple development.
- Dental and ectodermal abnormalities are consistent features.
- Syndactyly of fingers and toes observed in some individuals.
Implications:
- Further understanding of SEN syndrome's genetic basis and phenotypic variability.
- Highlights the importance of comprehensive evaluation in rare genetic disorders.
- Informs genetic counseling and management strategies for affected families.