Femoral Facial Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Femoral Facial Syndrome?
A pediatrician or family doctor usually coordinates care and will refer the family to specialists, such as an orthopedic surgeon for the legs and hips, a craniofacial specialist for facial features, and a nephrologist, a kidney doctor, if needed. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Femoral facial syndrome is a rare condition that a baby is born with. "Femoral" refers to the femur, the large thigh bone, and "facial" refers to the face. Babies with this condition often have thigh bones that are shorter or shaped differently than usual, along with certain facial features. Doctors sometimes call it femoral hypoplasia unusual facies syndrome.
Symptoms
The signs are usually noticed at birth. The most common sign is a short femur, on one or both sides, and the hip, knee, and foot joints may also be affected. Facial features include a small upturned nose, a small jaw, a long space between the nose and upper lip, and eyes set somewhat wide apart. Some children have a cleft palate.
Causes and who gets it
Doctors do not fully understand what causes femoral facial syndrome. Most cases happen in families with no history of the condition, though some research suggests that certain health factors during pregnancy may play a role.
How doctors diagnose it
Doctors often suspect this condition based on the baby's appearance and the shape of the legs at birth. X-rays can reveal a short or oddly shaped femur, and an ultrasound before birth may sometimes show it.
Treatment
There is no cure. Treatment focuses on each person's specific needs. Leg length differences and hip problems may be managed with braces or surgery, and physical therapy may help. A cleft palate is usually repaired with surgery in the first year or two of life. Many children grow up to walk and live active lives.
When to see a doctor
Most cases are found at birth, and a child with this condition needs regular follow-up care. Parents should talk to a doctor if their child has uneven legs, trouble walking, hip pain, or delays in movement.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either one can track growth, order X-rays, handle follow-up visits, and coordinate referrals to specialists.
Common questions
Is femoral facial syndrome inherited from parents?
In most cases, it is not. It usually appears in a child with no family history of the condition. A genetics specialist can help families understand more if they have questions.
Will my child be able to walk?
Many children with this condition do learn to walk, sometimes with help from therapy, braces, or surgery. The outlook depends on how severe the bone and hip problems are. Results differ from child to child.
Can it be found before birth?
Sometimes. An ultrasound during pregnancy may show a shorter than expected thigh bone. Doctors cannot always confirm the condition until after birth.
Does the condition affect learning or thinking?
Most children with femoral facial syndrome have typical thinking and learning ability. Some may need extra support related to hearing, speech, or other physical issues.
Sources
- NIH Genetic and Rare Diseases Information Center - Femoral hypoplasia - unusual facies syndrome
- National Organization for Rare Disorders - Femoral Facial Syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
