gms | German Medical Science

Objectives/Interrogation: To study a cohort of patients with congenital hand anomalies associated with polydactyly of the foot.

Methods: Retrospective review of patient notes, online records, radiology and medical photography. Hand anomalies in patients with polydactyly of the foot were recorded along with family history, associated anomalies and genetic work-up.

Results and Conclusions: Of thirty six patients with foot polydactyly, nineteen had congenital hand anomalies. Eleven patients had 5th ray polydactyly of the foot, five had first ray polydactyly, two had bilateral polysyndactyly and one had central polydactyly. In most patients the anomaly of the hands was mirrored in the feet with radial anomalies associated with first ray polydactyly of foot, ulnar anomalies with fifth ray polydactyly of foot. Sixteen cases had bilateral hand anomalies. Types of hand anomaly observed included nine type A ulnar polydactyly, three bilateral triphalangeal thumbs, two polysyndactyly, one third web space syndactyly, one central polydactyly and one patient with a left type A and right type B ulnar polydactyly.

Nine patients had a positive family history for anomalies of the hands or feet. Six patients had an associated congenital anomaly. These anomalies included Bardet Biedl syndrome, 22q11 (with cleft and cardiac anomalies), laryngomalacia and left sensorineural hearing loss. The majority of patients were referred to genetics for assessment. Of these one was found to have GLI3 mutation, one to have Grieg cephalopolysyndactyly syndrome (caused by mutation in GLI3 gene), one autosomal dominant polysyndactyly and one triphalangeal thumb polydactyly syndrome (abnormality in LMBR1 gene).

Our cohort is similar to the second group described by Burger et al (Acta Orthopaedica 2018; 89 (1): 113-118) in their population with foot anomalies i.e. combined hand and foot anomalies without severe anomalies in other parts of the body. However it was highlighted in their paper that subtle craniofacial features of Greig syndrome may be missed. Many of these patients will test positive for GLI3 mutation. We had two patients with confirmed GLI3 mutation. We hope reporting on our population will add to the knowledge of what are rare phenotypes and aid future investigation in this field.