Polydactyly postaxial with median cleft of upper lip

Polydactyly Postaxial with Median Cleft of Upper Lip is a rare congenital condition characterized by the presence of extra digits (polydactyly) on the postaxial (ulnar) side of the hands and/or feet, combined with a median cleft of the upper lip. This condition represents a unique combination of physical anomalies that can affect both the appearance and function of the hands, feet, and face.

Etiology and Genetics

The exact cause of Polydactyly Postaxial with Median Cleft of Upper Lip is not fully understood, but it is believed to involve genetic mutations that affect the development of the limbs and facial structures during embryogenesis. The condition can occur sporadically or may be inherited in an autosomal dominant or recessive pattern, depending on the underlying genetic mutation.

Clinical Features

Patients with this condition typically present with:

• Polydactyly: The presence of extra fingers or toes, most commonly on the little finger side (postaxial). The extra digits can range from small, non-functional nubbins to fully formed, functional digits.
• Median Cleft of the Upper Lip: A rare form of cleft lip where there is a vertical splitting of the upper lip in the middle. This can vary in severity from a small notch to a deep cleft affecting the base of the nose and the dental alveolus.

Diagnosis

Diagnosis of Polydactyly Postaxial with Median Cleft of Upper Lip is primarily based on physical examination. Imaging studies, such as X-rays, can be used to assess the structure of the extra digits and any associated skeletal abnormalities. Genetic testing may be helpful in identifying any underlying genetic mutations and for counseling regarding inheritance patterns.

Treatment

Treatment for Polydactyly Postaxial with Median Cleft of Upper Lip is multidisciplinary and may involve:

• Surgical Correction: Surgery may be required to remove extra digits, reconstruct the upper lip, and address any associated skeletal abnormalities. The timing and approach to surgery depend on the severity of the anomalies and the overall health of the patient.
• Supportive Care: Speech therapy, dental care, and psychological support may be necessary to address functional and cosmetic concerns related to the median cleft of the upper lip.

Prognosis

The prognosis for individuals with Polydactyly Postaxial with Median Cleft of Upper Lip varies depending on the severity of the anomalies and the success of surgical interventions. With appropriate treatment, most individuals can achieve good functional and cosmetic outcomes.