Waardenburg anophthalmia syndrome (WAS) is a rare genetic disorder characterized by a combination of features from both Waardenburg syndrome and anophthalmia/microphthalmia. It is characterized by either anopthalmia or micropthalmia, osseous synostosis, ectrodactylism, polydactylism, and syndactylism. This condition is caused by homozygous mutations in the SMOC1 gene, in chromosome 14.

Overview:

Waardenburg anophthalmia syndrome is a rare condition that combines features of Waardenburg syndrome, which affects the pigmentation of the hair, skin, and eyes, with anophthalmia or microphthalmia, which involves underdeveloped or absent eyes.

Symptoms:

Symptoms of Waardenburg anophthalmia syndrome can vary but may include:

• Pigmentary abnormalities such as white forelock, heterochromia (different colored eyes), or patches of skin depigmentation.
• Underdeveloped or absent eyes (anophthalmia/microphthalmia).
• Facial abnormalities such as a broad nasal bridge, small nostrils, or underdeveloped midface.
• Hearing loss.
• Skeletal abnormalities.
• Cardiac defects (less common).

Epidemiology:

Waardenburg anophthalmia syndrome is an extremely rare condition, and the exact prevalence is not well-established. So far (according to OMIM), 29 cases from families in Brazil, Italy, Turkey, and Lebanon have been reported worldwide. It is likely that only a few cases have been reported worldwide.

Causes:

Waardenburg anophthalmia syndrome is typically caused by genetic mutations that affect the development of the eyes and facial features during embryonic development. Specific genes involved in the condition may vary among individuals.

Diagnosis:

Diagnosis of Waardenburg anophthalmia syndrome involves clinical evaluation by a medical geneticist or other specialists. Genetic testing may be conducted to identify mutations in genes associated with Waardenburg syndrome and anophthalmia/microphthalmia. Imaging studies such as ultrasound or MRI may be used to assess the eyes and facial structures.

Treatment:

Treatment for Waardenburg anophthalmia syndrome is primarily supportive and may involve:

• Management of hearing loss with hearing aids or cochlear implants.
• Surgical interventions to address facial abnormalities or skeletal defects.
• Visual rehabilitation and counseling for individuals with visual impairment.
• Management of any associated medical conditions such as cardiac defects.

Prevention:

As Waardenburg anophthalmia syndrome is a genetic disorder, prevention strategies primarily involve genetic counseling for families at risk of passing on the condition. Prenatal testing may be available for couples with a family history of the syndrome to assess the risk of recurrence in future pregnancies.

In summary, Waardenburg anophthalmia syndrome is a rare genetic disorder characterized by a combination of features from both Waardenburg syndrome and anophthalmia/microphthalmia. Early diagnosis, supportive care, and appropriate interventions are essential for managing the condition and improving outcomes. Genetic counseling plays a crucial role in prevention and family planning for individuals at risk of inheriting the disorder.