Management of clinical manifestations
There is unfortunately no definitive cure for ALX1-related FND yet. However, with experience gained from few individuals with ALX1-related FND medical professionals can provide early correction of the facial structures. A plastic surgeon experienced in craniofacial surgery is crucial for planning of how and when to perform surgery. However, other specialists may be needed to provide aid with other medical conditions such as difficulties in vision, eating, speech and intellectual disability.

Multidisciplinary management — including, but not limited to a team of plastic surgeons, otolaryngology-head & neck surgeons, dental surgeons, ophthalmologists, paediatric neurologists, medical geneticists — is recommended. Contribution by radiology is crucial to determine the extent of craniofacial defects and plan for surgery. Additional direction by a psychiatrist and neurosurgeon may be needed according to symptoms manifested by the affected individual.

The long-term follow-up of the patients should be coordinated by a plastic surgeon with experience craniofacial surgery.

Special attention should be given to:

  • Eating and dental problems
  • Eyesight
  • Early management of developmental delay
  • Timely management of craniofacial defects
  • Body image dissatisfaction-related problems

Special attention should be given to management of anomalies affecting mouth and nose as they can lead to speech delay in otherwise intellectually-normal individuals. Feeding may be challenging and proper medical assistance should provided from early childhood.

Unfortunately, there is currently no curative treatment available. 

Genetic counselling
ALX1-related FND is a genetic disorder and, if you are willing, you should also ask for advice from a genetic counselor or medical geneticist. They may offer blood tests to detect ALX1-related FND mutations and provide you with information on how ALX1-related FND runs in families.

ALX1-related FND has an autosomal recessive inheritance pattern. The heterozygous carriers of the disease that have been described till now appear completely free of disease. However, there is a 25% possibility of a child being homozygous, and thus being affected, born to parents who are both heterozygous. Genetic testing for the first-degree relatives of affected individuals and carriers may be offered, especially in cases of relatives with consanguineous marriage who are planning for a child. Prenatal diagnosis may also be provided if the family-specific pathogenic ALX1 mutation is elucidated. However, prenatal diagnosis in ALX1-related FND poses a challenge as the disease may or may not cause serious health problems in life. Thus, imaging during pregnancy is crucial and second trimester ultrasound screening, and fetal MRI if necessary, should be performed. During genetic counselling, each couple should be managed on a case by case basis, considering the specific needs of the family.