The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Calvarial skull defect||90%|
|Abnormality of bone mineral density||7.5%|
|Abnormality of coagulation||7.5%|
|Aplasia cutis congenita over the scalp vertex||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My 4 month old daughter was born with a small open wound on the back of her head. It has healed into a pink scar and has since been diagnosed as aplasia cutis. They have done an ultrasound and said everything was normal and she needed no further treatment. They told me they would only do genetic testing if she does not hit her milestones. She is hitting them all so far and more. My question is, is this just an isolated scar with no other problems? Or will she develop problems later in life? Is it possible to have aplasia cutis congenita with no other mental or physical abnormalities? See answer
My son was born with cutis aplasia congenita. He had two midline spots on his scalp, one spot was 11mm in diameter and the other spot was 13 mm. They have finally healed now and it took about 2 months. I was wondering if there is any research out there for a cause or if it is known what causes it. I have taken him to four different doctors who have never seen it before and don't have a lot of information on it. He did have genetic testing done at birth which all came back normal. See answer
My daughter was diagnosed with aplasia cutis congenita. Can you provide me with more information about this condition, including its causes, associated problems, and how it might be treated? See answer
I was born with aplasia cutis congenita. I would like to learn more about this condition, including how it is inherited and how it may affect me as I get older. See answer