Overview

Femoral-facial syndrome (FFS) is a congenital disorder which is associated with maternal diabetes during pregnancy. The underdevelopment of the thigh bone and specific clinical features can characterize it.   Individuals with FFS will manifest skeletal and craniofacial abnormalities, these individuals often experience significant hearing and vision problems.¹

Clinical features of FFS

Facial features 

• Upward slanting eyes
• Short nose with a broad tip
• Long space between the nose and upper lip (philtrum)
• Thin upper lip
• Small lower jaw (micrognathia)
• Cleft palate

Other features 

• Defects of spinal bone (vertebrae)
• Extra fingers or toes (polydactyly)
• Ear defects
• Genitourinary abnormalities
• Underdeveloped lungs
• Abnormal kidney development
• Congenital heart defect (Patent ductus arteriosus)

Why it’s important to know about hearing and vision problems related to the syndrome

Understanding hearing and vision problems related to the syndrome is important for improving the overall quality of life of the individual. It helps in early diagnosis, management and timely treatment which can improve the quality of life of the individual. Additionally, It helps mitigate developmental delays or other complications. Early detection can significantly improve children with sensory impairments by addressing issues before they impact cognitive and social development.

Incidence

Femoral-facial syndrome (FFS) is a rare genetic condition which affects a small number of the population worldwide. It is typically diagnosed in infants or early childhood, though its symptoms can be seen at various stages of development. This syndrome affects both genders equally.

It is a rare genetic disorder with a low prevalence rate, and it is typically inherited in an autosomal dominant pattern (meaning when you inherit just one copy of a gene from either your mother or father), you will possibly display the condition/trait connected with that gene.¹ 

Hearing and vision problems in Femoral-facial syndrome

The hearing and vision problems in Femoral facial syndrome are not universal. Hearing and vision problems are not among the most common symptoms, they can only occur in some of the cases.

Hearing problems

Hearing problems in femoral facial syndrome can occur in only some cases due to the abnormal development of the ears.  which include

• Low-set and poorly formed ears (microtia)
• Small/absent ears (anotia)

Hearing loss may be the result of the deformation or absence of the outer ears but the severity can differ. It is important to note that the hearing problem is not universal; it can be seen only in some individuals.

Individuals with FFS are recommended to do timely hearing evaluations by an audiologist to identify and manage any hearing issues that may arise.²

Vision problems

Individuals with FFS may experience vision problems but it is not a universal problem this can be seen in some of the patients with certain eye and vision issues.

The main symptoms that are seen in individuals with FFS are:

• Upwardly slanting eyelids (up-slanted palpebral fissures) 
• Cross-eyed appearance (strabismus)
• Microphthalmia

However, most of the individuals with FFS appear to have normal intellectual development.  The vision problems associated with FFS individuals vary, some patients have a coss-eyed appearance (strabismus) or other visual issues related to facial and brain abnormalities.

It is recommended that the individual with FFS undergo regular eye examinations to monitor vision problems and get treatments for any issues that arise.

The management of FFS requires a multidisciplinary approach to address the various orthopaedic, maxillofacial and other problems that can occur.

Diagnosis

Based on the signs and the symptoms the individual with Femoral facial syndrome will require a combination of clinical evolutions and imaging techniques to diagnose the issues related to the syndrome. The signs and symptoms vary in different individuals based on the major body systems.⁴

 A diagnosis of FFS is done by following techniques.

Prenatal ultrasound imaging

The FFS can be diagnosed during pregnancy through ultrasound imaging where major abnormalities such as femoral hypoplasia and facial anomalies can be detected in the late first or early 2nd trimester.⁴

Evaluation by facial features

FFS can be evaluated by examining the facial features of the individual. The femoral hypoplasia will have facial features, such as:⁴

• Underdeveloped lower jaw and mouth which can result in a small mouth
• Long space between the nose and the upper lip
• Upward slanting of the eye openings
• Thin upper lip

Imaging technique

To do physical examination imaging techniques such as X-rays and MRI are utilised to assess the extent of femoral hypoplasia and to evaluate any associated skeletal or internal anomalies.⁴

Hearing assessment

 Audiological assessments are important for detecting hearing loss which may be present due to the structural abnormalities of the ear and other related factors. This includes:⁵

• Pure tone audiometry testing

(to measure hearing sensitivity, allow the quietest volume you can hear at each pitch)

• Impedance audiometry

(to evaluate the middle-ear function)

• Bone conduction testing 

(to evaluate the tiny hair cells in the cochlea which is the part of your inner ear)

• Auditory brainstem response (ABR)

(to evaluate the connection between the inner ear and your brain)

Vision assessment

A comprehensive eye examination is important to identify the different vision problems in the individual with FFS. This includes both visual function and functional vision performance:⁶

Visual acuity test

To assess the clarity and the ability to estimate the finest details that can be identified and the amount of refractive errors.

Contrast sensitivity 

To assess the ability of the individual to recognise the image intensity at different contrasts. 

 Ocular alignment test 

This is to check the amount of strabismus (crossed eye) or the other alignment issues.

The retinal examination or the fundus examination 

This is to rule out any structural abnormalities in the back of your eye.

Treatment and management

There is no treatment or cure for femoral facial syndrome. Regardless, the signs and symptoms of FFS can be supervised by a multidisciplinary approach to overcome the miscellaneous issues of the individual and improve the overall quality of life.^7,8

Orthopaedic management

Surgical treatments may be required for femoral hypoplasia and associated limb abnormalities.⁴

Maxillofacial treatment

Cleft palate and other facial abnormalities may require surgical treatment.

Audiological treatment 

For individuals diagnosed with hearing loss, hearing aids may be recommended to improve audio function. Surgical interventions may be required with individuals with structural ear abnormalities to enhance their hearing capabilities. Speech therapy can help individuals with hearing impairment to improve communication skills.

Ophthalmological treatment

The comprehensive examination is important for the early detection and correction of the eye problems. If an individual is diagnosed with strabismus (crossed eye appearance) the individual may require surgical correction to align the eye properly and improve binocular vision. In some individuals to address vision processing issues and improve coordination between the two eyes vision therapies must be required. Managing eyelid abnormalities may require surgical treatment to correct the slanting eye and improve its functions and appearance.

Genetic counseling

As this condition is due to a genetic disorder the individual should be educated about the nature of FFS and its potential association with maternal diabetes,  as this can help the individuals to understand and will be beneficial for the families to understand recurrence risk and implications for future pregnancies.

Summary 

Femoral-facial syndrome (FFS) is a congenital disorder which is associated with maternal diabetes during pregnancy. The underdevelopment of the thigh bone and specific clinical features can characterize it. Individuals with FFS will manifest skeletal and craniofacial abnormalities, these individuals often experience significant hearing and vision problems.

The indie features worlds with FFS will exhibit sensory impairments and it is important to diagnose and treat at the earliest to improve the quality of life of the individual and to mitigate the developmental delays. 

Femoral-facial syndrome (FFS) is a rare congenital genetic disorder with lower prevalence and affects equally in both genders. It is diagnosed in infants or in early childhood with prominent facial and brain abnormalities. 

The hearing and vision problems in Femoral facial syndrome are not universal. Hearing and vision problems are not among the most common symptoms, they can only occur in some of the cases. It manifests as a deformed outer ear, hearing loss, upwardly slanting eyes, cross eye appearance and microphthalmia. 

A multidisciplinary approach is required to manage the syndrome and the individual with FFS is recommended to have regular eye and ear examinations to assess the hearing and visual problems. The regular examination helps in early diagnosis and management.