Is Aplasia Cutis Congenita Genetic or Hereditary?

Most cases of aplasia cutis congenita (ACC) are isolated and sporadic, meaning they happen by chance and are not inherited ^[1][2]. If your baby has an isolated spot of missing skin and no other health issues, and there is no history of ACC in your family, the chance of your next baby having the condition is generally very low ^[3][4]. Babies with isolated ACC usually heal beautifully and go on to live completely normal, healthy lives ^[1]. However, ACC can be genetic and hereditary in some families, particularly when it occurs as part of a larger genetic syndrome ^[1][2].

Isolated ACC vs. Syndromic ACC

Whether ACC is likely to happen again depends heavily on if it is an isolated condition or part of a syndrome.

Isolated (Non-syndromic) ACC
In the majority of cases, babies are born with a single patch of missing skin on the scalp and no other physical differences ^[1][5]. Most of these isolated cases are not hereditary. Sometimes, non-genetic factors cause them, such as complications during a twin pregnancy (like the loss of a twin early in pregnancy, sometimes called a “vanishing twin”). This can temporarily disrupt blood flow to the baby’s developing skin, though this specific cause usually results in missing skin on the trunk or limbs rather than the scalp ^[6][7].

In rare instances, isolated ACC can run in families. Changes (mutations) in genes such as DLL4 or UBA2 have been linked to ACC. While these genes are usually associated with a broader syndrome, they can sometimes cause such a mild version of the condition that it appears completely isolated ^[8][9].

Syndromic ACC
When ACC occurs alongside other physical differences, it may be part of a genetic syndrome. The most common syndrome associated with ACC is Adams-Oliver syndrome. Babies with this syndrome typically have ACC on their scalp as well as limb differences, such as missing nails, shortened fingers or toes, or other bone abnormalities ^[10][11].

Adams-Oliver syndrome is hereditary and has specific inheritance patterns:

• Autosomal dominant: If one parent carries the gene mutation (such as in the DLL4 or NOTCH1 genes), there is a 50% chance of passing it to each future child ^[8][12].
• Autosomal recessive: Sometimes, both parents carry a hidden copy of a mutated gene (such as DOCK6) but do not have the syndrome themselves. In this case, there is a 25% chance in each pregnancy that the baby will inherit the syndrome ^[13][14].

ACC can also be a feature of other chromosomal conditions, such as Trisomy 13 (Patau syndrome). However, this is a severe condition that is almost always diagnosed during pregnancy or immediately at birth due to multiple major medical issues ^[15]. If your baby has been sent home and is otherwise healthy, this is not a concern you need to worry about.

What Does This Mean for Future Pregnancies?

If you are planning another pregnancy, the recurrence risk—the chance that your next baby will also have ACC—depends entirely on the root cause of your baby’s condition.

To help determine this risk, your child’s doctor will perform a thorough physical evaluation. They will examine your baby’s limbs, check their heart, and evaluate the size and location of the scalp lesion ^[4][16]. Midline scalp lesions (those directly in the middle of the head) may require imaging, such as an ultrasound or MRI ^[17][18]. This is done to ensure the skin defect does not connect to the brain or underlying blood vessels, which is critical safety information before any treatment. Your doctor will assess the spot and tell you if this imaging is needed urgently or if it can be scheduled as a routine follow-up ^[18].

Because the genetics of ACC can be complex, meeting with a genetic counselor or a pediatric geneticist before becoming pregnant again can be incredibly helpful ^[19]. A genetic counselor visit typically involves a conversation to review your family history in detail and look for any subtle physical signs in you or your partner. They will then help you decide if a simple blood test for your baby or yourselves makes sense to clarify the risk for future pregnancies ^[14][19].