Epidemiological research and pathogenesis
CRHD is a rare orthopedic condition that can manifest unilaterally or bilaterally and has an estimated incidence of 0.06% to 0.16%11,12. For new patients who visited Alfred I. duPont Institute, the incidence of CRHD was 0.15%, with 27 of the 50 total affected individuals having bilateral dislocation, meaning that a total of 77 elbows were affected by CRHD10. Among the other 23 unilateral cases, 11 were on the right, whereas 12 were on the left10. Although CRHD is relatively uncommon, these findings highlight its clinical relevance, as the condition can exert a substantial functional impact on affected individuals6,7,13.
Moreover, with the epiphyseal center of the humerus and radial head being immature, the ossification process is not fully complete until approximately 5 years of age14. Hence, it is difficult to use any of the typical diagnostic techniques to obtain an accurate diagnosis. Demographic variations (age, sex, and ethnicity) exist in terms of the epidemiology of CRHD. However, depending on the classification, age at diagnosis can vary significantly, ranging from infancy to 18 years, with an average age at diagnosis of approximately 6 years10. The wide age range demonstrates the uncertainty that arises when encountering new potential patients, as the key symptoms and characteristics of CRHD become clearer as the affected individual ages. Additionally, there are sex disparities in the prevalence of CRHD, as shown by the study by Mardam-Bey with 50 patients10. The review revealed little female predominance, with 29 females and 21 males. However, other studies have generally revealed a more evenly distributed sex distribution in the affected population, suggesting that CRHD does not necessarily favor sex and that this distribution mostly depends on the population and sample size of the study15,16.
To understand the overall epidemiology of CRHD, one also needs to investigate the role that genetic factors play in the overall picture. Research with a focus on the genetic aspects of CRHD provided us with a new understanding of the overall impact of inheritance patterns and genetic mutations on CRHD epidemiology6. A possible association between 6p25.3 deletion syndrome and CRHD has been reported. In a patient with a 1.9 Mb deletion at chromosome 6p25.3, bilateral CRHD was diagnosed at 6 months of age alongside features including hearing loss, global developmental delay, and anterior segment ocular abnormalities8. While this case suggests that CRHD may be part of the phenotypic spectrum of 6p25.3 deletion syndrome, it does not establish a causal relationship. Long-term follow-up also identified additional manifestations, including abnormal dentition, gynecological abnormalities, and persistently low IgM levels8.
Additionally, connective tissue disorders associated with collagen abnormalities, such as Shprintzen-Goldberg syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome, are also implicated in CRHD because of generalized joint laxity and compromised structural integrity of the annular ligament16. Another important mechanism implicated in the development of CRHD involves disturbances in endochondral ossification and growth plate development. Fibroblast growth factor (FGF) signaling plays a critical role in regulating chondrocyte proliferation, differentiation, and maturation during long-bone growth. Mutations in FGFR1, FGFR2, and FGFR3, which are associated with several skeletal dysplasia syndromes, including Apert syndrome, Pfeiffer syndrome, and achondroplasia, disrupt normal chondrocyte maturation and impair endochondral ossification. Such developmental abnormalities may affect the morphology and alignment of the radiocapitellar joint, predisposing individuals to congenital or developmental radial head dislocation17,18,19. Errors in other key signaling pathways involved in endochondral ossification, such as the WNT signaling pathway, also contribute to CRHD. Mutations in genes such as LMX1B (nail-patella syndrome) and FLNA (oto-palato-digital syndrome) affect the WNT pathway, resulting in skeletal anomalies, including radial head dislocation20,21,22,23. Disproportionate growth between the ulna and radius is another mechanism contributing to CRHD. Syndromes such as Holt-Oram and Rothmund-Thomson, which are characterized by radial ray deficiencies, frequently exhibit CRHD as a clinical feature. Mutations in the TBX5 gene with gain-of-function effects, as observed in atypical Holt-Oram syndrome, result in excessive radial growth. This abnormal growth disrupts the alignment between the radial head and the capitellum, ultimately causing dislocation24,25,26.
Furthermore, HOX genes, a subset of homeobox genes, are crucial for the development of the vertebrate axial skeleton, central nervous system, and, most prominently, limbs27. This is particularly evident in the roles of Hoxs A and D, which are essential for the proper formation of the upper limb. The segmentation of distinct regions along the proximal-distal axis is governed by the sequential activation of HOX genes during the early stages of embryonic development27. Specifically, the HOX D1-3 genes are expressed in the anterior (radial) mesoderm, following a pattern often described as "Russian dolls”16,28. This pattern of expression is critical for proper limb development in CRHD, and other limb abnormalities have been associated with changes in HOX D genes. For example, CRHD is a crucial clinical characteristic of the disease known as Kantaputra Mesomelic Dysplasia (KMD)9,29. Short stature, shortening of the ulna and radius, and other skeletal abnormalities are characteristics of KMDs9. Genetic investigations have revealed that the underlying etiology of this condition is a duplication of the HOXD locus on chromosome 2q9. The skeletal abnormalities that are observed are caused by this duplication, which interferes with the normal expression of HOXD genes. The mode of inheritance for CRHD, whether isolated or syndromic, remains unclear.
According to some studies, the mode of inheritance of CRHD may be autosomal, with dominant and recessive patterns appearing under various conditions2,30 (Figure 2). In contrast to autosomal dominant inheritance, which suggests that the disorder may be caused by a single copy of the faulty gene from one parent, autosomal recessive inheritance requires that the mutant gene be carried by both parents. The exact pattern of inheritance may change on the basis of the particular genetic mutation and related condition2,30.
Diagnostic investigations
Diagnostic tools such as plain radiography, ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) are useful for investigating CRHD and its associated syndromes. Initial radiographic evaluation of CRHD relies on osseous deformities defined by McFarland in 1936, including a relative forearm length discrepancy (short ulna or long radius), hypoplastic or absent humeral capitellum, prominent ulnar epicondyle, structural distal radial groove, underdeveloped trochlea, and a dome-shaped radial head with an elongated neck31. To improve diagnostic specificity against chronic post-traumatic dislocations, Mardam-Bey and Ger (1979) adopted McFarland’s radiographic framework but suggested supplemental clinical factors. These factors include bilateral involvement, familial occurrence, absence of prior trauma, closed reduction irreducibility, documentation at birth, or concurrent systemic anomalies32.
To demonstrate just how important plain radiography is for the diagnosis of CRHD, it is important to highlight that when examining suspected cases of CRHD, plain radiography is one of the first diagnostic tools used to examine the patient32,33. This is because it offers important preliminary insights into the abnormalities in the structures that are connected to this condition (Figure 3A–B)34 and its speed and accessibility. Furthermore, plain radiography is more widely available and used in a variety of healthcare settings since it is less expensive than other imaging modalities. This case involved a male patient who presented at the age of three with congenital, bilateral restriction of forearm rotation. Radiographic imaging revealed anterior dislocation at both radial heads. Furthermore, the proximal radius was found to be hypoplastic relative to the proximal ulna. These findings facilitate the early diagnosis of bilateral CRHD35. MRI and CT are additional imaging modalities that offer complementary information that plain radiography is unable to provide. Superior soft tissue contrast and accurate anatomical visualization make MRI a valuable tool in the field of medical imaging36. MRI helps with complex cases that may involve ligaments, tendons, and cartilage (Figure 4A–C). A study demonstrating this effectiveness focused on evaluating ulnar rotation osteotomy for treating the anterior dislocation variant of CRHD37. In addition, MRI is able to distinguish whether the radial notch of the ulna is located on the anterior-lateral side rather than where it is usually located on the lateral side, and it has been shown that the cartilage covers the radial notch and is somewhat superficial37.
Furthermore, CT scans offer incredibly detailed images of the bone and are an excellent way to assess the three-dimensional structure of the elbow. They can exhibit a degree of abnormalities, including alterations in the radial notch of the ulna and hypoplasia or overgrowth of the radial head. These detailed images are integral for surgical planning, as they enable bone morphology to undergo precise assessment and determine the spatial relationship between the capitellum and radial head, which is clearly observed in the case of bilateral anterior CRHD. Through the use of CT scans of the affected area, a more personalized treatment plan was established since the images produced by the CT scanner were detailed and enabled the researchers to gain a better understanding of the range of motion and rotation, whether it was constrained, and how much, as well as a better understanding of whether the surgical approach was necessary for the patient38.
Nonoperative management
The management of CRHD primarily depends on the patient's level of functional impairment, pain severity, and age (Table 1). Since CRHD can be asymptomatic in some individuals, many cases do not necessitate immediate intervention and are instead managed conservatively with regular monitoring of joint function. Patients with a preserved range of motion generally find CRHD manageable. Concomitant progressive cubitus valgus can also occur alongside a CRHD, potentially owing to lateral physeal pressure exerted by the anteriorly displaced radial head. In the absence of symptoms or functional limitations, a nonoperative approach involving clinical observation is often sufficient and can yield satisfactory outcomes34. The treatment approach for CRHD is a subject of ongoing debate and evolution. In general, monitoring patients, particularly children, rather than opting for surgical correction, is advised because of the potential risks of redislocation and related complications39. Furthermore, it is better to individualize surgical indications for each patient. Consent must be obtained from both the patient and the parents, and effective communication between the patient, parents, and surgeon must be maintained to ensure a clear understanding of the treatment plan and expected outcomes.
Operative techniques
Symptomatic patients often require surgical treatment to improve function and reduce discomfort. Radial head excision is a commonly employed surgical option for CRHD12,32,40. However, when the procedure was conducted before the age of 15, there was a notable tendency for the proximal radius to regrow, whereas when performed after the age of 15, it effectively reduced pain and enhanced appearance, although it had minimal influence on motion6. Miao et al. retrospectively evaluated 20 children with congenital radial head dislocation treated by proximal ulnar rotational osteotomy. At a mean follow-up of 33.9 months, no redislocations or major complications were observed; elbow flexion improved significantly, while forearm rotation was preserved; and 85% of patients achieved excellent radiographic and functional outcomes. These findings suggest that proximal ulnar rotational osteotomy is a safe and effective surgical option for selected cases of anterior CRHD41. An open reduction of the radial head, combined with ulnar osteotomy and annular ligament reconstruction, can also be performed. The annular ligament can be reconstructed via a free tendon graft, the triceps tendon, the forearm fascia, or the fascia of the extensor carpi ulnaris, which can be accessed via the ulna13. Annular ligament reconstruction using a suture anchor is another highly effective technique for restoring the ligament and enabling full functional recovery in children with radial head dislocation42. However, this open reduction approach has previously been considered unreliable for all patients, even when supplemented with ulnar or radial osteotomy or annular ligament reconstruction, due to the high risk of redislocation. The contributing factors include a hypoplastic or absent humeral capitulum or a dome-shaped radial head. Additionally, the presence of significant radial head deformities, often associated with posterior radial dislocations, serves as a contraindication for open reduction. Ultimately, combining ulnar osteotomy with annular ligament reconstruction offers a more effective method for stabilizing the radial heads and achieving favorable outcomes13. To address potential complications from a single osteotomy, such as hematoma, thrombosis, infection, and even functional impairment, a double osteotomy of the proximal ulna has been suggested for CRHD patients5. Alternatively, a surgical procedure can be performed to facilitate the reduction and stabilization of the radiocapitellar joint using a “two-incision approach.” The first incision is dedicated to radial shortening, whereas the second incision is used for the open reduction of the radiocapitellar joint1. Finally, when the annular ligament becomes trapped between the displaced radial head and the capitellum, it can produce a snapping sensation that markedly limits motion and greatly diminishes quality of life. This limitation results from the "checkrein phenomenon," where the annular ligament tightly encircles the radial neck. Surgical interventions, including releasing the entrapped ligament or excising the annular ligament, have demonstrated favorable outcomes in these specific scenarios43.
Treatment outcomes
The clinical and functional outcomes reported in the literature vary considerably depending on the chosen surgical strategy, patient demographics, and the length of follow-up. A review involving 16 patients, 10 treated surgically and 6 managed nonsurgically, evaluated outcomes over an average of 10 years for the surgical group and 16 years for the nonsurgical group. Among these patients, 8 had bilateral dislocations. The study revealed that while elbow flexion remained unchanged in the surgically treated group, forearm rotation improved significantly. The carrying angle was comparable between the surgical and nonsurgical groups, but surgically treated patients showed a marked ulnar variance of +4.9 mm, compared with -0.4 mm in the nonsurgical group. Notably, the surgical group experienced substantial relief from elbow pain following radial head excision. However, 25% of these patients develop wrist pain, which is likely attributable to increased ulnar variance, and require additional surgical correction12. A study involving eight elbows affected by CRHD in six patients with an average age of 13 years examined the outcomes of radial head excision over a seven-year follow-up period. Postoperatively, elbow flexion and extension improved modestly by 11°, whereas forearm rotation demonstrated a significant increase of 53°. All participants reported relief from pain following the procedure. The overall outcomes were evaluated as good in 5 elbows, fair in 2, and poor in 1. The poor result requires repeat excision following reformation40. Radial head excision for patients with isolated CRHD and associated symptoms effectively alleviated pain, leading to high levels of patient satisfaction. However, while forearm rotation slightly improved, there was no noticeable enhancement in elbow joint flexion or extension12,32. The open reduction of the radial head combined with ulnar osteotomy in a five-year-old boy with CRHD led to pain relief, significant improvement in elbow mobility, and no signs of osteoarthritis after a 10-year follow-up5. Furthermore, a study involving 14 children with CRHD who underwent a double osteotomy of the proximal ulna revealed that after the proximal radioulnar joint was rotated posterolaterally following the ulnar cuts, all the participants experienced substantial improvement in elbow movement and correction of the carrying angle to normal. Flexion, extension, and rotation also improved significantly, with no major complications, nerve damage, or redislocation observed during follow-up. Thus, double osteotomy of the proximal ulna demonstrated superior outcomes and increased patient satisfaction with fewer complications5. For the surgical procedure performed on an otherwise healthy 8-year-old individual utilizing the “two-incision approach,” after one year of follow-up, the patient’s elbow demonstrated stability without valgus deformity or fixed flexion issues. Supination significantly improved from 1° to 40°. Radiographic evaluation revealed reformation of the radial head, proper joint alignment, and correction of the radial bow1. Redislocation of the radial head is a frequent complication after corrective ulnar osteotomy. However, the underlying cause of redislocation remains unclear, and there is ongoing debate about the effectiveness of reoperation as a treatment approach.
Diagnostic challenges and future considerations
The modest nature of symptoms in early life makes the diagnosis of CRHD difficult. When children exhibit elbow motion limits or pain during adolescence or during assessments for other diseases, CRHD is sometimes discovered by accident. The malformations are radiographically obscured by the immature epiphyseal centers of the radial head and capitulum in young children. These changes become more noticeable after ossification, usually around age 5. As a result, early radiographs may not reveal the distinctive characteristics of CRHD, delaying diagnosis. Despite its importance, clinical examination frequently requires corroborative imaging because characteristics, such as a long, narrow radius neck or a dome-shaped radial head, can be inconspicuous and confusing for other illnesses. A comprehensive history, including the absence of trauma and familial occurrences, and clinical examination are essential for CRHD diagnosis. To distinguish CRHD from traumatic dislocations, it is important to consider factors such as bilateral dislocation, associated congenital abnormalities, lack of trauma history, and irreducibility32. The occurrence of snapping or locking symptoms in situations with anterior dislocation, as noted in the literature, significantly complicates the clinical picture39. Furthermore, recognition of CRHD in adolescence or adulthood may be particularly challenging in patients presenting after elbow trauma, where congenital and traumatic radial head dislocations can exhibit overlapping clinical and radiographic features. Misdiagnosis may result in inappropriate reduction attempts and unnecessary intervention. In equivocal cases, advanced imaging can provide valuable diagnostic information44. CT facilitates detailed assessment of osseous morphology, whereas MRI can identify ligamentous, cartilaginous, and bone marrow changes suggestive of acute injury. Arthrography may further assist by distinguishing intracapsular from extracapsular radial head positioning39,44. Recently, a dual-algorithm diagnostic framework integrating clinical history, radiographic findings, and advanced imaging modalities was proposed to improve differentiation between congenital and traumatic radial head dislocations and support clinical decision-making in complex cases44. However, the clinical manifestations might occasionally be modest. When symptoms are mild, delaying treatment until skeletal maturity is generally recommended unless significant functional impairment necessitates immediate intervention. To accurately diagnose and effectively manage CRHD, modern imaging techniques such as MRI and arthrography must be integrated with a thorough clinical evaluation.