Polysyndactyly and Limb Malformations in a Newborn with Mohr Syndrome (OFD2): A Rare Orthopedic Perspective

BACKGROUND: Mohr syndrome (Oral-Facial-Digital Syndrome Type 2, OFD2) is a rare autosomal recessive condition characterized by craniofacial, oral, digital, and sometimes central nervous system and cardiac anomalies. Among these, digital anomalies such as polydactyly and syndactyly are of orthopedic significance due to their potential impact on limb function and quality of life.

CASE DESCRIPTION: We report a full-term male newborn, first in birth order of non-consanguineous parents, who presented with respiratory distress and multiple congenital anomalies. Notable features included median cleft lip, hairy forehead, ocular hypertelorism, broad nasal bridge, and bilateral polysyndactyly of hands and feet with hallucial duplication. Systemic evaluation revealed Double Outlet Right Atrium (DORA) and Dandy–Walker malformation. A clinical diagnosis of Mohr syndrome was made based on phenotypic presentation without genetic testing. In this case, the limb anomalies were consistent with orthopedic features reported in Mohr syndrome.

DISCUSSION: The bilateral postaxial and preaxial polydactyly, particularly with duplication of halluces and hand anomalies, is highly suggestive of OFD2 and differentiates it from OFD Type 1. Early identification of these musculoskeletal disorders enables timely orthopedic consultation. Literature review supports early surgical planning to prevent functional impairment in cases of syndromic polydactyly.

CONCLUSION: In this rare case, Mohr syndrome (Oral-Facial-Digital Syndrome Type 2) was identified based on characteristic craniofacial features and digital anomalies. The child exhibited functional impairment due to limb deformities, prompting early orthopedic referral. This report emphasizes that when such a constellation of findings is observed, Mohr syndrome should be considered.