OBJECTIVE: To analyze the clinical characteristics of 170 cases of macrodactyly. METHODS: Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed. RESULTS: Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative. CONCLUSION Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.
DNA Mutational Analysis ; Fingers/abnormalities* ; Humans ; Infant, Newborn ; Limb Deformities, Congenital ; Mutation ; Toes

Forefoot disorders are often seen in clinical practice. Forefoot deformity and pain can deteriorate gait function and decrease quality of life. This review presents common forefoot disorders and conservative treatment using an insole or orthosis. Metatarsalgia is a painful foot condition affecting the metatarsal (MT) region of the foot. A MT pad, MT bar, or forefoot cushion can be used to alleviate MT pain. Hallux valgus is a deformity characterized by medial deviation of the first MT and lateral deviation of the hallux. A toe spreader, valgus splint, and bunion shield are commonly applied to patients with hallux valgus. Hallux limitus and hallux rigidus refer to painful limitations of dorsiflexion of the first metatarsophalangeal joint. A kinetic wedge foot orthosis or rocker sole can help relieve symptoms from hallux limitus or rigidus. Hammer, claw, and mallet toes are sagittal plane deformities of the lesser toes. Toe sleeve or padding can be applied over high-pressure areas in the proximal or distal interphalangeal joints or under the MT heads. An MT off-loading insole can also be used to alleviate symptoms following lesser toe deformities. Morton's neuroma is a benign neuroma of an intermetatarsal plantar nerve that leads to a painful condition affecting the MT area. The MT bar, the plantar pad, or a more cushioned insole would be useful. In addition, patients with any of the above various forefoot disorders should avoid tight-fitting or high-heeled shoes. Applying an insole or orthosis and wearing proper shoes can be beneficial for managing forefoot disorders.
Animals ; Congenital Abnormalities ; Foot ; Foot Orthoses ; Gait ; Hallux ; Hallux Limitus ; Hallux Rigidus ; Hallux Valgus ; Hammer Toe Syndrome ; Head ; Hoof and Claw ; Humans ; Joints ; Metatarsal Bones ; Metatarsalgia ; Metatarsophalangeal Joint ; Neuroma ; Orthotic Devices ; Quality of Life ; Shoes ; Splints ; Toes

PURPOSE: Toe ulcers have been implicated as a causative factor in diabetic foot amputation. The aim of this study was to evaluate the outcomes of percutaneous needle flexor tenotomies of diabetic claw toes with ulcers or pending ulcers. MATERIALS AND METHODS: The authors undertook a retrospective chart review between January 2014 and June 2016 to identify those patients who underwent a percutaneous needle flexor tenotomy for diabetic claw toe deformities. We evaluated 54 toes in 42 patients. Twenty-four patients were female and the mean age at the time of operation was 57 years. The mean follow-up time was 11 months. Thirty-four patients (46 toes) had tip toe ulcers or pending ulcers and 8 patients (8 toes) had dorsal pending ulcers. All patients had palpable pulses and good capillary refill. RESULTS: Forty-three of 46 tip toe ulcers (93.5%) healed without significant complications and 8 dorsal ulcers showed no specific changes within 5 weeks. There were no recurrent ulcers at final follow-up. Four patients developed transfer lesion of the adjacent toe and needed subsequent tenotomy. CONCLUSION: Percutaneous needle tenotomy in an outpatient clinic was an effective and safe method for treating toe ulcers in neuropathic patients to offload the tip of the toe so that ulcer healing could occur.
Ambulatory Care Facilities ; Amputation ; Animals ; Capillaries ; Congenital Abnormalities* ; Diabetic Foot ; Female ; Follow-Up Studies ; Hammer Toe Syndrome* ; Hoof and Claw* ; Humans ; Methods ; Needles ; Outpatients* ; Retrospective Studies ; Tenotomy* ; Toes ; Ulcer*

BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and 5th fingers and toes. Initially, we suspected him having pseudopseudohypoparathyroidism (PPHP) because of normal biochemical parameters, including electrolyte, Ca, P, and parathyroid hormone (PTH) levels; however, his mother and maternal grandmother had the same conditions in their hands and feet. Furthermore, his mother showed normal biochemical parameters. To the best of our knowledge, PPHP is inherited via a mutated paternal allele, owing to the paternal imprinting of GNAS (guanine nucleotide binding protein, alpha stimulating) in the renal proximal tubule. Therefore, we decided to further analyze the genetic background in this family. METHODS: Whole exome sequencing was performed using genomic DNA from the affected mother, son, and the unaffected father as a negative control. RESULTS: We selected the intersection between 45,490 variants from the mother and 45,646 variants from the son and excluded 27,512 overlapping variants identified from the father. By excluding homogenous and compound heterozygous variants and removing all previously reported variants, 147 variants were identified to be shared by the mother and son. Variants that had least proximities among species were excluded and finally 23 variants remained. CONCLUSION: Among them, we identified a defect in parathyroid hormone like hormone (PTHLH), encoding the PTH-related protein, to be disease-causative. Herein, we report a family affected with brachydactyly type E2 caused by a novel PTHLH mutation, which was confused with PPHP with unclassical genetic penetrance.
Alleles ; Brachydactyly* ; Carrier Proteins ; Congenital Abnormalities ; DNA ; Exome ; Fathers ; Fingers ; Foot ; Genetic Background ; Grandparents ; Hand ; Humans ; Metacarpal Bones ; Metatarsal Bones ; Mothers ; Parathyroid Hormone ; Parathyroid Hormone-Related Protein ; Penetrance ; Pseudopseudohypoparathyroidism* ; Toes

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.
Anodontia ; Cardiovascular Abnormalities ; Child ; Cleft Lip ; Cleft Palate ; Congenital Abnormalities* ; Extremities* ; Foot ; Humans ; Lip* ; Male ; Microstomia ; Palate ; Syndactyly ; Toes

Metatarsalgia is one of the most common causes of patients complaining of pain in their feet. This pain is the plantar forefoot, including the second to fourth metatarsal heads and arises from either mechanical or iatrogenic causes. On the other hand, it is frequently accompanied by a deformity of the toes as well as of the first and fifth rays. The pain has a variety of causes, and sometimes the cause is difficult to distinguish. The variability of possible causative factors necessitates an individualized approach to treatment. To determine these causes, this paper presents an overview of the gait mechanics, plantar pressure, and the classification according to the etiology.
Classification ; Congenital Abnormalities ; Foot ; Gait ; Hand ; Head ; Humans ; Mechanics ; Metatarsal Bones ; Metatarsalgia* ; Toes

PURPOSE: The purpose of this study is to determine the correlation between the correction loss of hallux valgus angle and the severity of valgus angle of the second toe. MATERIALS AND METHODS: We selected 312 cases from 268 surgical patients with hallux valgus deformity receiving distal chevron osteotomy. For a radiological evaluation, we analyzed the changes in the hallux valgus angles, first to second intermetatarsal angles, and valgus angle of the second toe post index operations. All patients were women; the mean age was 46 years. The mean follow-up period was 17 months. RESULTS: The mean hallux valgus angle was 33.6° preoperatively (range, 25.7°~44.8°), 13.1° (range, 8.4°~16.4°) after 4 weeks of postoperative period, and 17.1° (range, 9.4°~28.5°) at their final follow-up. The mean valgus angle of the second toe was 8.4° preoperatively (range, 2.0°~25.8°) and 8.3° (range, 1.7°~24.9°) at the final follow-up. Preoperatively, there was a positive correlation between the valgus angle of the second toe and hallux valgus angle (r=0.747, p=0.001). The correction loss of hallux valgus angle had a significant correlation with the severity of valgus angle of the second toe (r=0.802, p=0.001). CONCLUSION: The existence of the second toe valgus deformity may present itself as a cause of correction loss of hallux valgus angle. The preoperative measurement of the second toe valgus angle may be a good predictor of correction loss; therefore, thorough preoperative warning on the possibility of correction loss should be conducted to maximize patient satisfaction after the procedure.
Congenital Abnormalities ; Female ; Follow-Up Studies ; Hallux Valgus* ; Hallux* ; Humans ; Osteotomy ; Patient Satisfaction ; Postoperative Period ; Toes*

The goal of surgical correction for hallux valgus is to achieve a painless, shoe-wearable, and relatively straight toe with a balanced joint motion that results in aesthetically and functionally satisfactory toe. To date, there has not been a consensus on the ultimate surgical procedure for hallux valgus correction. Unfortunately, such a consensus may be difficult since it is not uncommon to encounter complications after hallux valgus correction. Postoperative soft tissue complications include difficult wound healing, infection, hypertrophy, or pain of the scar, joint stiffness, and tendon or sensory nerve damage. Postoperative bony complications include malunion, nonunion, failure of fixation, failure of angle correction, recurred deformity, osteomyelitis, and failure of balance between the metatarsal heads. Herein, we review common complications after surgical correction of hallux valgus, such as stiff joint, bony complications, recurrence of the deformity, and hallux varus.
Cicatrix ; Congenital Abnormalities ; Consensus ; Hallux Valgus* ; Hallux Varus ; Hallux* ; Head ; Hypertrophy ; Joints ; Metatarsal Bones ; Osteomyelitis ; Recurrence ; Tendons ; Toes ; Wound Healing

Hallux valgus is a deformity characterized by lateral deviation of the great toe and medial deviation of the first metatarsal. When planning an operative treatment, it is important to realize that the deformity is tridimensional and diverse. Operative techniques include medial eminence resection, distal soft tissue procedure, first metatarsal osteotomy (distal, diaphyseal, proximal, or multiple), proximal phalanx osteotomy, arthrodesis (first metatarsophalangeal or metatarsocuneiform joint), and so on. Among these techniques, osteotomy is the main procedure for correcting the hallux valgus. The objective of this article is to describe the characteristics and recent advancements made for corrective osteotomies in the hallux valgus. The pathophysiology of the hallux valgus is also described.
Arthrodesis ; Congenital Abnormalities ; Hallux Valgus* ; Hallux* ; Median Eminence ; Metatarsal Bones ; Osteotomy* ; Toes

Stroke is a leading cause of disability in the elderly. Among complications of stroke, musculoskeletal problems are common, thereby causing improper gait biomechanics, development of pain, and limitation in performing activities of daily living. Post-stroke hip fractures and greater trochanteric pain syndrome are common complication near hip joint. Knee osteoarthritis can be accelerated by altered biomechanics of post-stroke period, that is associated with ambulation levels. Stiff knee gait and genu recurvatum can be developed after stroke and usually contribute to abnormal gait patterns, due to weakness or spasticity of various muscles, and they need to control or compensate affected muscle activities. In case of ankle and foot problems, foot varus deformity is caused by imbalance between muscles that control ankle movement, while claw toes and the persistent extension of the great toe are mainly due to overactivity of muscles that moves toes, and mainstay of treatment is to control inappropriate activities of affected muscles. It is important to make the exact therapeutic decision and establish the rehabilitation plan through the early evaluation of lower extremity musculoskeletal problems that affect the mobility and ambulation.
Activities of Daily Living ; Aged ; Ankle ; Congenital Abnormalities ; Femur ; Foot ; Gait ; Hammer Toe Syndrome ; Hip Fractures ; Hip Joint ; Humans ; Knee ; Lower Extremity* ; Muscle Spasticity ; Muscles ; Osteoarthritis, Knee ; Rehabilitation ; Stroke* ; Toes ; Walking