Cranioacrofacial Syndrome

What is cranioacrofacial syndrome?

Cranioacrofacial syndrome is an extremely rare condition that is characterized by pulmonary stenosis, abnormal facial features, and a ventricular-septal defect. 

What are the symptoms of cranioacrofacial syndrome?

Symptoms of this condition include:

• Ventricular-septal defect
• Pulmonary stenosis
• Narrow head and face
• Micrognathia
• Small mouth
• Narrow nose
• Attached earlobes
• Slender build
• Two to three toe syndactyly
• Thoracic kyphosis
• Limited mobility in the fingers
• Dupuytren contractures

What causes cranioacrofacial syndrome?

Further research must be done into the cause of this syndrome, but medical professionals are aware that it is inherited in an autosomal dominant pattern when passed down. 

How is cranioacrofacial syndrome diagnosed?

Doctors will diagnose this syndrome based on an evaluation of the characteristic symptoms and ruling out other conditions. Due to the rarity of cranioacrofacial syndrome, diagnosis is very difficult. 

What are the treatments for cranioacrofacial syndrome?

There is no treatment specific to cranioacrofacial syndrome; doctors will address the specific symptoms. 

Where can I find out more about cranioacrofacial syndrome?

• • FDNA Telehealth
  • OMIM
  • NIH