Freeman-Sheldon syndrome (FSS), a rare autosomal dominant disorder (distal arthrogryposis type 2A), is characterized by distinctive facial features and distal limb contractures. We present a detailed case of an 11-year-old male diagnosed with FSS exhibiting a less common combination of unilateral congenital hip dislocation and prominent bilateral wrist flexion contractures. Characteristic facial features included significant microstomia with pursed lips, a distinct V-shaped chin dimple, hypertelorism, deep-set eyes with down-slanting palpebral fissures, a high-arched palate, and dental crowding. Limb examination revealed bilateral camptodactyly, marked ulnar deviation of the fingers ("windmill vane hand"), thumb-in-palm deformity, and severely limited wrist movement. Orthopedic assessment revealed a right congenital hip dislocation confirmed radiographically, accompanied by a right hip flexion contracture (positive Thomas test), instability (positive Staheli test), and rectus femoris tightness (positive Ely test), with significant limitation in abduction and external rotation. The patient's early development was notable for feeding difficulties and significant gross motor delays. Notably, the patient's father presented with similar hand deformities and characteristic facial features, along with a history of bilateral foot surgery, strongly suggesting familial inheritance. Despite these challenges, the patient demonstrates good functional adaptation with a DASH score of 4.2 and participation in sports. This case underscores the phenotypic variability of FSS, highlights the importance of meticulous clinical examination, detailed developmental and family history, and contributes to the understanding of less common musculoskeletal associations.
Keywords: Freeman-Sheldon Syndrome, Distal Arthrogryposis, Congenital Hip Dislocation, Wrist Flexion Contracture, Familial Inheritance, Developmental Delay, Case Report
How to cite this article:Christanto RY, Martanto TW, Zulkarnain A, Yasid H., Freeman-Sheldon Syndrome Presenting with Unilateral Congenital Hip Dislocation and Bilateral Wrist Flexion Contractures: A Detailed Rare Case Report with Familial Occurrence and Literature Review .Int J Drug Deliv Technol. 2026;16(1s): 949-954; DOI: 10.25258/ijddt.16. 949-954