Zamzam–Sheriff–Phillips Syndrome

Overview

Zamzam–Sheriff–Phillips syndrome (ZSPS) is an extremely rare genetic disorder characterized primarily by ocular, dental, and limb abnormalities. It was first described in 1985 by Zamzam, Sheriff, and Phillips, who reported a family with multiple affected siblings. Due to its rarity, ZSPS remains poorly characterized in medical literature, and only a few cases have been documented worldwide.

Causes

ZSPS is believed to follow an autosomal recessive inheritance pattern. This means the affected individual must inherit two copies of the mutated gene—one from each parent. The specific gene responsible for ZSPS has not yet been identified, and no chromosomal abnormality has been definitively linked to the syndrome. Further genetic studies are required to establish its molecular basis.

Symptoms

The hallmark features of Zamzam–Sheriff–Phillips syndrome include a combination of anomalies affecting the eyes, teeth, and extremities. Documented symptoms include:

• Congenital absence of both eyes (bilateral anophthalmia) or severe microphthalmia

• Dental anomalies such as hypodontia (missing teeth) or abnormal tooth shape

• Postaxial polydactyly (extra digits on the ulnar side of the hands or fibular side of the feet)

• Other limb anomalies, such as syndactyly (fusion of fingers or toes)

In some cases, additional developmental delays or minor craniofacial differences may be present, though these are less consistently reported.

Diagnosis

Diagnosis of ZSPS is clinical and relies on recognizing the triad of ocular, dental, and limb abnormalities. Steps in the diagnostic process may include:

• Detailed physical examination to identify characteristic skeletal and dental features

• Ophthalmologic evaluation to confirm microphthalmia or anophthalmia

• Dental X-rays to assess tooth development and structure

• Family history analysis to detect patterns of inheritance

Genetic testing may be used to rule out other syndromes with overlapping features, but as of now, no specific test exists to confirm ZSPS directly.

Treatment

Treatment for Zamzam–Sheriff–Phillips syndrome is symptomatic and multidisciplinary. Management typically includes:

• Ocular prosthetics and support for visual impairment

• Dental care for replacement of missing teeth and correction of abnormalities

• Orthopedic or surgical correction of polydactyly and other limb anomalies

• Speech and occupational therapy as needed

• Psychosocial support for the individual and family

Each treatment plan is personalized, depending on the specific combination and severity of symptoms.

Prognosis

The prognosis for individuals with ZSPS depends on the severity of their anomalies and the presence of any associated developmental delays. With proper medical and surgical interventions, many individuals can lead functional lives. However, significant visual impairment and limb anomalies can pose lifelong challenges. Early intervention and supportive therapies are essential for improving outcomes and quality of life.