Introduction
Ophthalmo-acromelic syndrome (OAS) is a rare genetic disorder that affects the eyes and limbs. The ophthalmo-acromelic syndrome is also called Waardenburg anophthalmia syndrome, microphthalmia with limb anomalies, or anophthalmia-syndactyly. Anophthalmia refers to the absence of one or both eyes. The ophthalmo-acromelic syndrome is characterized by mild microphthalmia (a condition in which one or both eyeball is small) or true anophthalmia. OAS is caused by mutation (alteration in the structure of the gene) SMOC1 gene (SPARC-related modular calcium-binding protein 1 gene). It generally occurs in infants. The prevalence of OAS is low, as till now, 35 cases have been reported. The diagnosis of OAS is difficult but early diagnosis aids in proper medical intervention. The causes, symptoms, diagnosis, and treatment of the ophthalmo-acromelic syndrome are explained in this article.
What Is Ophthalmo-Acromelic Syndrome?
The ophthalmo-acromelic syndrome is also called Waardenburg syndrome. The ophthalmo-acromelic syndrome was first explained by Waardenburg in 1935. This is a rare syndrome characterized by anophthalmia and hand and foot anomalies. The prevalence of this syndrome is unknown, but it is seen in Turkey. It is present at the time of the birth. The loss of weight gain is seen. This affects bone formation and causes skeletal anomalies. It involves skeletal of long bones of the arms and legs. The affected individuals have gaps in the lip and palate (cleft palate), facial deformation, and skeletal anomalies.
What Causes Ophthalmo-Acromelic Syndrome?
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg anophthalmia syndrome, is a rare genetic disorder affecting multiple body systems. The specific cause of OAS is currently unknown, but it is believed to be primarily caused by genetic mutations. Genetic mutations can occur spontaneously (de novo mutations) or be inherited from one or both parents. OAS is thought to have an autosomal recessive pattern of inheritance, which means that a person with the disorder get two copies of the faulty gene from their parents, who may be a carrier of the gene mutation. Researchers have identified mutations in the SMOC1 (SPARC-related modular calcium-binding protein 1) gene as a potential cause of OAS in some individuals. However, not all cases of OAS have been linked to SMOC1 mutations, suggesting the involvement of other unidentified genetic factors. The exact mechanisms by which these genetic mutations lead to the characteristic features of OAS are not fully understood. However, the syndrome is characterized by a range of abnormalities, including eye malformations (such as anophthalmia or microphthalmia), limb deformities (such as shortened limbs or missing fingers and toes), and other skeletal abnormalities.
What Are the Symptoms of Ophthalmo-Acromelic Syndrome?
OAS affects infants and causes limb and bone deformity. The distinct features of OAS are true anophthalmia, limb deformity, and cleft palate.
The following are the symptoms of the ophthalmo-acromelic syndrome:
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Cleft lip and palate (a developmental disorder in which there is the failure of fusion of palatine processes).
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Abnormal kidney.
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Intellectual disability.
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True anophthalmia (a condition in which one or both eyes are absent).
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Microphthalmia (a condition in which one or both eyeball is small).
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Abnormality in the structure and function of the brain.
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Fever.
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Gastroenteritis (inflammation of the stomach wall).
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Malnutrition.
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Anemia (a condition in which a person suffers from low blood count).
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Pneumonia (a lung disease in which a person suffers from excessive coughing).
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Mental retardation.
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Delayed response to the stimuli (touch, smell, and sound).
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Poor speech development in the children.
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Facial appearance with a prominent forehead.
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Flat cheekbone.
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Polydactyly (a condition in which patients have supernumerary fingers or toes).
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Syndactyly (a condition in which fingers or toes fusion occurs).
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Largely shaped teeth.
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Rugated tongue.
How to Diagnose Ophthalmo-Acromelic Syndrome?
A gene mutation causes ophthalmo-acromelic syndrome. However, its exact cause is not unknown, and it affects infants. The diagnosis of OAS is difficult. Physical examination and history help the physician to rule out the disease.
The following are the ways to diagnose ophthalmo-acromelic syndrome:
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Magnetic Resonance Imaging (MRI): MRI revealed the absence of parts of the brain and the delay in myelination of the white matter.
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Ultrasonography: Ultrasonography reveals the size and changes in the kidney.
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Radiography: Patients with OAG have abnormal hands and feet, which X-rays can diagnose.
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Computed Tomography (CT): The CT scan detects brain abnormalities.
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Genetic Testing: Genetic testing helps to analyze SMOC1 gene mutation.
What Are the Treatment Options for Ophthalmo-Acromelic Syndrome?
The management of this syndrome involves addressing the individual symptoms and providing supportive care to improve the quality of life for affected individuals.
The following is the treatment option for OAS:
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Ophthalmic Interventions: Early intervention is crucial since OAS involves eye malformations such as anophthalmia or microphthalmia (absent or small eyes). Treatment may involve prosthetic eyes or ocular implants to improve the appearance and protect the eye socket. Regular ophthalmic examinations are necessary to monitor any changes and manage associated eye conditions.
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Limb Deformities: Depending on the severity of limb deformities, treatment options may include orthopedic interventions, physical therapy, and occupational therapy. These approaches aim to improve mobility, functionality, and independence. Assistive devices such as prosthetics or orthotics may be considered to help with limb function.
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Skeletal Abnormalities: Some individuals with OAS may have skeletal abnormalities. Orthopedic interventions may be required to address skeletal anomalies, such as scoliosis or joint contractures. Based on the individual's needs and the severity of the skeletal abnormalities, treatment programs are tailored.
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Hearing Impairment: OAS can be associated with hearing loss. Appropriate audiological assessments should be conducted to determine the extent of hearing impairment. Hearing aids or other assistive listening devices may be recommended to help improve hearing and communication abilities.
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Communication and Developmental Support: Early intervention programs and therapies including occupational therapy, physical therapy, and speech therapy can help individuals with OAS develop communication skills, motor abilities, and overall developmental progress.
Conclusion
The ophthalmo-acromelic syndrome is also called Waardenburg syndrome. The specific cause of OAS is gene mutation. The patient with OAS suffers from bone and limb deformity. As discussed above, the disease can be treated by symptomatic treatment and ophthalmic intervention. Early diagnosis and proper medical intervention can give a better prognosis in children.
