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) |
| Irregular hyperpigmentation | 90% |
| Abnormality of the musculature | 50% |
| Aplasia/Hypoplasia of the skin | 50% |
| Asymmetric growth | 50% |
| Seizures | 50% |
| Deeply set eye | 7.5% |
| Heterochromia iridis | 7.5% |
| Ptosis | 7.5% |
| Alopecia areata | - |
| Ataxia | - |
| Blepharophimosis | - |
| Delayed eruption of teeth | - |
| Dental malocclusion | - |
| Hemifacial atrophy | - |
| Horner syndrome | - |
| Kyphosis | - |
| Microtia | - |
| Migraine | - |
| Onset | - |
| Poliosis | - |
| Short mandibular rami | - |
| Sporadic | - |
| Trigeminal neuralgia | - |
At present there is no known specific treatment to stop the progression of progressive hemifacial atrophy. Since multiple systems of the body may be affected, a multidisciplinary team of physicians, surgeons, dentists, and psychologists may be needed to manage the different symptoms.[1][2][3][4]
Treatment options for progressive hemifacial atrophy are often the same as those used for linear scleroderma and may include the following:[1]
Hemicranial pain syndrome (can be in form of migraine or continuous severe headache, but on one side of the head) has been treated successfully by repetitive local botulinum toxin A injections.[1] Treatment of the eye and nerve involvement is symptomatic.[1][3]
Progressive hemifacial atrophy stops progressing on its own within 2 to 20 years, which makes it hard to decide if a therapy is successful. After the condition does stabilize, reconstructive surgery may be used to restore the natural shape of the face and eye. [1]
The following techniques are options for surgical reconstruction:[1]
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. Suggest an organization to add.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I developed progressive hemifacial atrophy while I was pregnant. Can progressive hemifacial atrophy be triggered by pregnancy? Is it related to polycystic ovarian syndrome or insulin resistance? See answer
I have a friend who is affected by progressive hemifacial atrophy. How is this condition treated? How can I locate doctors who are familiar with the management of this condition? See answer
