Which are the symptoms of Femoral Facial Syndrome?

Femoral Facial Syndrome: Symptoms and Characteristics

Femoral Facial Syndrome, also known as femoral-facial syndrome or femoral hypoplasia-unusual facies syndrome, is a rare congenital disorder that affects the development of the lower limbs and the face. It is characterized by a wide range of symptoms and physical abnormalities. While the severity and specific manifestations can vary from person to person, there are several key symptoms commonly associated with this syndrome.

1. Lower Limb Abnormalities:

Individuals with Femoral Facial Syndrome often exhibit various abnormalities in the lower limbs. These may include:

• Shortened or absent femur: The femur bone in the thigh may be underdeveloped or completely missing.


• Knee and hip joint abnormalities: Malformation or dislocation of the knee and hip joints can occur.


• Foot and ankle deformities: Clubfoot, equinovarus (inwardly turned foot), or other foot and ankle abnormalities may be present.

2. Facial Features:

The facial characteristics associated with Femoral Facial Syndrome can be quite distinct and recognizable. These may include:

• Micrognathia: A small jaw or receding chin.


• Cleft palate: A split or opening in the roof of the mouth.


• Low-set ears: Ears that are positioned lower than usual.


• Wide-set eyes: Eyes that are spaced farther apart than normal.


• Downward slanting of the eyes: The outer corners of the eyes may be lower than the inner corners.

3. Other Associated Abnormalities:

In addition to the distinctive lower limb and facial features, individuals with Femoral Facial Syndrome may experience other associated abnormalities, including:

• Genitourinary anomalies: Malformations of the urinary tract or reproductive organs.


• Cardiac defects: Structural abnormalities of the heart may be present.


• Spinal abnormalities: Scoliosis (curvature of the spine) or other vertebral defects can occur.


• Hearing loss: Some individuals may have hearing impairment.


• Intellectual disability: In some cases, cognitive impairment or developmental delays may be observed.

It is important to note that the symptoms and severity of Femoral Facial Syndrome can vary widely among affected individuals. Some individuals may only exhibit mild abnormalities, while others may have more pronounced physical and developmental challenges.

Diagnosis of Femoral Facial Syndrome typically involves a thorough physical examination, medical imaging (such as X-rays), and genetic testing. Early intervention and appropriate medical management are crucial to address the specific needs of individuals with this syndrome.

Disclaimer: This information is provided for educational purposes and should not be used as a substitute for professional medical advice. If you suspect you or someone you know may have Femoral Facial Syndrome, please consult a qualified healthcare professional for an accurate diagnosis and personalized guidance.