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PubMed This is a summary of 30 peer-reviewed journal articles Updated
Medical Genetics · Adams-Oliver syndrome

What Is Adams-Oliver Syndrome (AOS) in Aplasia Cutis?

At a Glance

Adams-Oliver syndrome (AOS) is a rare genetic condition where babies are born with missing scalp skin (aplasia cutis congenita) and structural differences in their hands or feet. Care involves a specialized medical team to manage skin healing, bone growth, and monitor potential organ involvement.

In this answer

5 sections

01

What Does Adams-Oliver Syndrome Look Like?

02

Why Does It Happen?

03

What is the Long-Term Outlook?

04

Building a Care Team

05

Day-to-Day Care and Management

Adams-Oliver syndrome (AOS) is a rare genetic condition where a baby is born with a spot of missing skin (aplasia cutis congenita, most often on the scalp) alongside differences in how their limbs have developed [1][2]. In the medical classification of aplasia cutis congenita, this specific combination is referred to as “Frieden Group 2” [3]. While the missing spot of skin is often what first catches a doctor’s attention, AOS means that other parts of your baby’s body—such as their fingers, toes, heart, or brain—may have also developed differently during pregnancy [4][5].

What Does Adams-Oliver Syndrome Look Like?

The most common and visible features of AOS involve the skin and the limbs:

  • Aplasia Cutis Congenita (ACC): Most babies with AOS have a localized area of missing skin on the top of their head (the scalp) [1]. In some cases, the skull bone beneath the skin spot may also be unformed, thin, or completely missing [6][7].
  • Cutis Marmorata Telangiectatica Congenita (CMTC): Many babies with AOS also have this vascular skin condition, which looks like a prominent, mottled, or purplish “marbled” net-like pattern on the skin [8][9].
  • Limb Abnormalities: Babies with AOS often have shortened or missing fingers or toes, which doctors refer to as terminal transverse limb defects [10][2]. This can range from digits that are slightly shorter than usual (brachydactyly), to entirely missing digits, or small, underformed nails [11][12].

Why Does It Happen?

AOS is a genetic condition caused by changes (mutations) in specific genes that help a baby’s body develop [5][13]. Researchers have linked the syndrome to several genes (such as NOTCH1, DLL4, and DOCK6) that normally play a role in the healthy growth of blood vessels, skin, and limbs [14][15].

These genetic changes can be inherited from a parent—even if that parent only has very mild, unnoticeable symptoms—or they can happen completely by chance as a new (de novo) mutation in the baby [6][15]. A medical geneticist can arrange for specialized testing to help determine the exact genetic cause for your baby [6].

What is the Long-Term Outlook?

When parents hear a syndrome diagnosis, their first fear is often for their child’s future. The impact of AOS is highly variable. Many children with Adams-Oliver syndrome have entirely normal intelligence and life expectancy, particularly if they do not have severe internal complications [16][4]. When cognitive or developmental delays do occur, they are typically related to structural differences in the brain [17].

Building a Care Team

Because Adams-Oliver syndrome can affect internal systems that you cannot see, your baby will need a multidisciplinary care team—a group of different specialists working together to ensure their overall health [18][19]. Depending on your baby’s specific needs, this team may include:

  • Pediatric Cardiology (Heart Specialist): Severe forms of AOS can involve cardiovascular issues. These can range from structural holes in the heart (septal defects) to missing blood vessels, like the absence of the right pulmonary artery [5][20]. An early heart evaluation using an echocardiogram is a critical step [4].
  • Medical Genetics: A geneticist can confirm the diagnosis, arrange for genetic testing, and help you understand what this diagnosis means for your baby’s future and for any future pregnancies [6][21].
  • Pediatric Neurology: Because the condition can affect the brain, a neurologist may be brought in. They will often order imaging—like a head ultrasound or MRI—to look for structural differences in how the brain folded (polymicrogyria) or for areas of calcification [15][22].
  • Pediatric Ophthalmology (Eye Specialist): Routine eye exams are recommended to monitor for any changes in the blood vessels of the eyes [23][24].
  • Orthopedics: Specialists can evaluate the limb differences and provide support or therapies to help your baby adapt as they grow [4].

Day-to-Day Care and Management

Treatment for AOS is highly individualized and focuses on addressing each child’s specific symptoms.

For the skin, the spot of aplasia cutis congenita is often treated with a daily routine of gentle, conservative wound care to help it heal into a scar [25][26]. Before you leave the hospital, ask your doctor for a specific, step-by-step wound care protocol, including exactly which ointments and non-stick dressings to use. When holding or feeding your newborn, support their head carefully to avoid putting any direct pressure on the wound, and place them on their back to sleep using a soft, approved crib surface that minimizes friction.

If your baby’s skull bone is unformed beneath the spot, it will often grow and close (ossify) on its own over the first few years of life [16]. However, larger spots, or those where the underlying bone gap is significant, may require surgical repair by a specialized surgeon down the line [27][28].

Safety Warning: If your baby has a large or deep area of ACC where the skull bone is missing, the fragile tissues covering the brain (the dura) or major blood vessels (like the sagittal sinus) may be dangerously close to the surface [29][30]. This requires extreme care to prevent trauma. Seek emergency medical attention immediately if you notice any bleeding from the spot or signs of infection, such as redness, swelling, oozing, or a fever.

Common questions in this guide

What causes Adams-Oliver syndrome?
Adams-Oliver syndrome is caused by genetic mutations that affect how blood vessels, skin, and limbs develop in the womb. These genetic changes can be inherited from a parent or occur completely by chance during a baby's early development.
Does my baby with Adams-Oliver syndrome need a heart scan?
Yes, because severe forms of the condition can involve cardiovascular differences like holes in the heart or missing blood vessels. An early echocardiogram is a critical step to evaluate your baby's internal health before they leave the hospital.
How do you treat the missing spot of skin on the scalp?
The scalp spot is usually treated with a conservative, daily routine of specific ointments and non-stick dressings to help it heal into a scar. It is important to support your baby's head carefully and avoid putting direct pressure or friction on the wound.
Will the missing skull bone in Adams-Oliver syndrome close on its own?
In many cases, the unformed skull bone beneath the missing skin will naturally grow and close over the first few years of life. However, if the spot is very large or has a significant gap, it may eventually require surgical repair by a specialist.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is our specific daily wound care routine for the scalp spot, and are there particular ointments or non-stick dressings you recommend?
  2. 2.Does my baby need an echocardiogram to check for heart structure differences before we are discharged?
  3. 3.When should we schedule brain imaging, such as a head ultrasound or MRI, to check for any underlying neurological involvement?
  4. 4.Can you refer us to a medical geneticist for specialized testing and to discuss whether this mutation is inherited?
  5. 5.Are there specific precautions we should take when holding, feeding, or putting our baby to sleep to protect the scalp?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

Related questions

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References

References (30)
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This page provides educational information about Adams-Oliver syndrome. Always consult your pediatric care team and medical geneticist for personalized advice, diagnostic testing, and treatment protocols for your baby.

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