Thomas syndrome

Thomas syndrome, also known as Potter sequence-cleft lip/palate-cardiopathy syndrome, is a multisystem condition primarily affecting the kidneys, heart, and craniofacial structures. It is characterized by significant renal anomalies, including multicystic kidney dysplasia and renal hypoplasia or aplasia, together with cardiac malformations and clefts of the lip and/or palate. The condition is extremely rare, affecting fewer than 1 in 1,000,000 people, and has been reported in only six patients. Although the precise genetic basis is not yet defined, transmission is suggested to follow an autosomal recessive pattern.

The clinical presentation of Thomas syndrome involves multiple organ systems. Renal findings include multicystic kidney dysplasia, renal hypoplasia or aplasia, and reduced amniotic fluid (oligohydramnios), which are fundamental features contributing to the Potter sequence. Cardiac anomalies are also common, with abnormal cardiovascular system morphology and a hypoplastic left heart reported in a significant number of cases. Craniofacial abnormalities, such as cleft palate and cleft upper lip, are prominent, often accompanied by features like dolichocephaly, hypertelorism, a high forehead, and downslanted palpebral fissures. Not all individuals experience every feature, and severity varies considerably.

The precise genetic basis of Thomas syndrome remains under investigation, as no specific gene has been identified to date. However, the inheritance pattern is suggested to be autosomal recessive, implying that affected individuals may inherit two copies of an altered gene, one from each parent. Understanding this pattern is important for family planning, and genetic counseling is recommended to help families assess recurrence risks and discuss testing options.

Currently, management of Thomas syndrome focuses on supportive care and symptom management, with treatment tailored to each individual’s needs. In the absence of established foundational or targeted therapies, a multidisciplinary team approach is essential to address the various clinical features. This involves regular surveillance to monitor renal function, cardiac status, and craniofacial development, ensuring that complications are detected and managed promptly. Patients and families are encouraged to discuss treatment options and appropriate monitoring strategies with their healthcare team, and genetic counseling remains an important component of care.

The outlook for individuals with Thomas syndrome is variable, with outcomes influenced by the severity of renal, cardiac, and craniofacial involvement as well as the timeliness of supportive interventions. With current standards of care, many individuals benefit from early and ongoing multidisciplinary management, which can help address complications as they arise. Outcomes described in medical literature continue to evolve as standards of care improve, and it is important to recognize that severity and symptoms vary widely between individuals. Families are advised to connect with genetic counselors and specialists experienced in managing multisystem conditions to receive guidance tailored to their specific situation.

Clinical trials are underway exploring new treatment approaches for Thomas syndrome. Individuals interested in clinical trials can search ClinicalTrials.gov or discuss eligibility with their care team.