SNP Shot: Genomic Insights

Scalp-ear-nipple syndrome is a disorder primarily affecting the scalp, ears, and nipples, as its name indicates. While these are the primary areas involved, other parts of the body can be affected in some individuals. The specific characteristics of this syndrome can differ, even among members of the same family.

Infants with scalp-ear-nipple syndrome are typically born with aplasia cutis congenita, characterized by irregular patches of skin abnormalities (lesions) on the scalp. These lesions appear as firm, elevated, hairless bumps resembling open sores or ulcers at birth, but they tend to heal during childhood.

Individuals with scalp-ear-nipple syndrome may have small, cup-shaped, folded, or otherwise slightly deformed external ears. Generally, their hearing is unaffected. These individuals also exhibit underdeveloped (hypothelia) or absent (athelia) nipples. In some instances, the underlying breast tissue is also missing (amastia).

Additional features that may be present in this condition include abnormally formed and fragile fingernails and toenails (nail dystrophy), dental irregularities such as widely spaced or missing teeth, skin fusion between certain fingers and toes (cutaneous syndactyly), and kidney abnormalities like the underdevelopment (hypoplasia) of one or both kidneys. Unusual facial characteristics, such as narrowed eye openings (narrowed palpebral fissures), increased distance between the inner corners of the eyes (telecanthus), a flattened nasal bridge, and nostrils that point forward instead of downward (anteverted nares), can also occur.

Inheritance:

Scalp-ear-nipple syndrome is inherited in an autosomal dominant pattern. This means that having just one copy of the changed gene in each cell is enough to cause the disorder. In most cases, the condition arises from new gene mutations and occurs in individuals with no prior family history of the syndrome. However, in other cases, an affected person inherits the mutated gene from an affected parent.