Pathologies

Achondroplasia is a skeletal dysplasia, a condition characterized by abnormal development of the skeleton, leading to disharmonious dwarfism and orthopedic deformities.

Amyoplasia is a form of arthrogryposis multiplex congenita characterized by multiple, symmetrical limb contractures, with replacement of normal muscle tissue with fibrous and adipose tissue. See the fact sheet “Arthrogryposis, Amyoplasia, and Distal Arthrogryposis “

The ankle can exhibit severe deformities due to various pathologies (infections, trauma, skeletal dysplasia, etc.). In these cases, it may be necessary to perform more or less complex surgical procedures, in specialized centers like OrthoChildren Center.

Subtalar arthroereisis for flatfeet in children, also known as calcaneo-stop or endorthesis, is a surgical procedure aimed at correcting flatfeet (and valgus feet) by limiting excessive pronation of the heel relative to the talus. This procedure involves inserting an implant into the tarsal sinus (in the space between the talus and the calcaneus, or in the talus or the calcaneus), which helps lift the arch of the foot and realign the hindfoot. See the fact sheet “Flat feet: corrective surgery“

The term arthrogryposis does not identify a specific syndrome, but a clinical characteristic, namely congenital multiple joint stiffness , involving two or more joints, and which can be found in different pathological conditions, with different etiologies: amyoplasia, distal arthrogryposis, etc. See the fact sheet “Arthrogryposis , amyoplasia and distal arthrogryposis”.

The term arthrogryposis does not identify a specific syndrome, but a clinical characteristic, namely congenital stiffness of multiple joints, which involves two or more anatomical districts , and which can be found in different pathological conditions, with different etiologies: amyoplasia, distal arthrogryposis, etc.

Surgical treatment of children with arthrogryposis requires expertise in this specific field and a multidisciplinary approach. Arthrogryposis is a rare and complex condition, with which few orthopedic surgeons have experience. Knowledge of complex orthopedic surgery of the various segments, neurology, rehabilitation, orthotics, and other aspects is required.

Avascular necrosis of the femoral head (AVN), also called osteonecrosis, is a pathological condition that occurs when the blood supply to the head of the femur is interrupted or reduced, causing death of bone tissue and eventual collapse of the bone structure.

Beckwith-Wiedemann syndrome is a rare genetic disorder characterized by overgrowth, predisposition to tumors and congenital malformations. From an orthopedic perspective, corrective surgery (symmetric epiphysiodesis) is frequently required to treat lower limb length discrepancy.

Blount’s disease is a growth disorder of the proximal tibia that causes a progressive varus deformity of the knee. Treatment requires centers with specific experience in this condition, such as OrthoChildren Center.

Bone cysts are fluid-filled cavities that develop inside bones. They can occur in any bone, but are most common in long bones (humerus, femur). Bone cysts are generally benign and sometimes resolve spontaneously, but in some cases they tend to progress, weakening the bone.

Brachymetatarsia is a clinical condition in which one or more metatarsals are shorter than normal. This is aesthetically unappealing and can cause pain, foot deformity, and difficulty walking. Surgical treatment can provide good results.

Cafè door is a surgical procedure described and advertised in the United States for the treatment of dislocated hips in patients with cerebral palsy to overcome the limits of the classic interventions, in particular VDRO osteotomy. OrthoChildren Center (Italy) is an experienced center for this condition.

Calcaneo-stop (or calcaneal stop) for flat feet in children, also known as arthroereisis or endorthesis, is a minimally invasive surgical procedure that aims to correct flat feet (and valgus feet) by limiting excessive pronation of the heel relative to the talus. This procedure involves inserting an implant into the tarsal sinus (in the talus, the heel, or the space between the talus and the heel), which helps lift the arch of the foot and realign the hindfoot. See the fact sheet “Flat feet: corrective surgery“. We perform regularly this procedure at OrthoChildren Center

Orthopedic surgery plays an important role in optimizing the function of children with Cerebral Palsy and should be performed by surgeons who have specific training (and experience) in this condition.

Charcot-Marie-Tooth disease is a hereditary neuropathy, that is, a genetically determined pathology that causes an alteration in the signal transmitted by both motor and sensory peripheral nerves and consequently leads to a progressive alteration of both control and motility function.

Congenital clubfoot is one of the most common deformities in pediatric orthopedics. OrthoChildren doctors follow the Ponseti method according to the principles of the Ponseti International Association.

In this section: useful tips for managing casts using the Ponseti method

This section is dedicated to tips and advice on applying and using the brace in the Ponseti method for congenital clubfoot.

Congenital dislocation of the patella is a rare condition in which the patella is dislocated (i.e., not positioned correctly). This causes impaired knee motion, often associated with a lack of full extension and deviation of the knee’s axis.

Congenital Femoral Deficiency (CFD) is a birth defect characterized by a shortened or absent femur (thigh bone). This condition ranges from mild to very severe, affecting the functionality of the limb.

The treatment of children with Congenital Femoral Deficiency (CFD) requires specific experience, as it is a complex condition, requiring knowledge of numerous areas of pediatric orthopedics: from the correction of congenital deformities to the use of external fixation to growth predictions.

See the fact sheet “Developmental Dysplasia of the Hip (DDH)”

Congenital muscular torticollis is a pathological condition of the newborn characterized by a retraction of the sternocleidomastoid muscle, which causes the head to tilt toward the side of the affected muscle and rotate toward the opposite side. In most cases, it resolves conservatively (physiotherapy, posture correction, etc.), but in rare cases, it requires surgery performed at specialized centers, such as OrthoChildren Center.

Congenital pseudarthrosis of the clavicle is a very rare congenital anomaly, in which the malformed clavicle appears interrupted in its central portion and the bone appears divided into two portions, one lateral and the other medial. Surgical treatment requires centers with experience, like OrthoChildren Center

Congenital pseudoarthrosis of the tibia is a rare condition and one of the most difficult to treat in pediatric orthopedics. Treatment requires centers with specific experience.

Congenital radioulnar synostosis is a rare malformation in which there is a fusion of the forearm bones (radius and ulna) which causes a limitation of pronation-supination movements. When surgical treatment is indicated, it should be performed by experienced centers, like OrthoChildren Center

Congenital short femur, also known as Congenital Femoral Deficiency (CFD) is a rare birth defect where the femur (thigh bone) is abnormally short or underdeveloped.
See the fact sheet “Congenital Femoral Deficiency (CFD) ”

Congenital short leg is a condition where one leg is shorter than the other at birth. See the fact sheet “Fibular Hemimelia”

Crouch gait (or flexed knee gait) in cerebral palsy, is a serious condition: if not treated properly, it tends to progressively worsen to the point of risking the loss of walking. Treatment requires centers with specific experience like OrthoChildren Center

Developmental Dysplasia of the Hip (DDH) includes a set of abnormalities of the hip of newborns that lead to a change in the morphology and relationship between the femoral head and the pelvis. Treatment requires centers with specific experience, like OrthoChildren Center.

This page was born from the experience of parents of Clara, a little girl treated with braces and casts for a hip dislocation, and from their willingness to help and offer practical advice to other parents who find themselves in similar situations.

Avascular necrosis of the femoral head (AVN) is the most feared complication in the treatment of DDH. The resulting clinical consequences affecting the hip can be serious and difficult to recover from.

Skin traction for developmental dysplasia of the hip consists of a period (from one week to several weeks) in which the child is placed in bed with his legs tractioned by weights to try to facilitate the reduction of a hip dislocation.

Distal arthrogryposis is a condition characterized by congenital joint contractures that primarily affect the extremities (hands and feet), without a clear muscular or neurological cause. There are several forms of distal arthrogryposis, each with specific characteristics, such as Freeman-Sheldon syndrome or Gordon syndrome. See the fact sheet “Arthrogryposis, Amyoplasia, and Distal Arthrogryposis“

Down syndrome is the most common genetic cause of intellectual disability and is caused by the presence, in part or in full, of an extra chromosome 21 (trisomy 21). Down syndrome can lead to a variety of orthopedic problems, including flat feet, patellar dislocation, hip and cervical spine instability, and generalized ligament laxity.

Post-traumatic varus elbow or cubitus varus is a deviation of the elbow axis into varus, secondary to a previous humeral fracture, generally a supracondylar fracture of the humerus or a fracture of the lateral condyle.

Equinus foot is a foot with a downward-pointing toe that lacks normal dorsiflexion (upward movement). This will result in an altered stance and gait pattern. Equinus foot may develop in cerebral palsy and other conditions. Orthopedic treatment requires a specialized center, like OrthoChildren Center.

The treatment of equinus foot is complex and requires centers with experience and knowledge of the anatomy, physiology, and various forms of equinus foot. OrthoChildren Center regularly has experience with all these procedures.

Exostosis (or osteochondroma) is a very common benign lesion in children, characterized by the formation of a hard protuberance that arises from the bone surface, usually near one end of a bone segment.

Excessive femoral anteversion is the most common cause of toe-in walking and one of the most frequent reasons for referral to a pediatric orthopedic surgeon. Femoral anteversion corresponds to the angle formed by the femoral neck relative to the femoral shaft in the coronal plane. In the most severe (rare) cases, corrective surgery is possible.

Fibular hemimelia is a birth defect where a child is born with a shorter or missing fibula (the smaller bone in the leg, the segment that goes from the knee to the ankle). It’s the most common form of congenital leg bone deficiency

Treatment of fibular hemimelia requires a center with specific experience because it is a complex condition, requiring knowledge of numerous areas of pediatric orthopedics: from the correction of congenital deformities to the use of external fixation to growth predictions.

Surgical correction of flatfeet in children (calcaneo stop, endorthesis, arthroereisis, etc.) is a simple procedure with good results in most cases, if performed with proper indications and techniques. OrthoChildren center performs this procedure with indications in line with international recommendations.

Hemi-epiphysiodesis (guided growth) for leg length discrepancies (LLD) is a minimally invasive and highly effective surgical procedure for treating lower limb length discrepancy in children. It involves the application of fixation devices (mostly plates) on both sides of the knee’s growth plate to slow overall growth in this area and thus slow overall growth of the limb. In the months/years following surgery, growth continues in the contralateral limb, progressively improving the length discrepancy.

Hemi-epiphysiodesis (guided growth) for valgus knee  is a simple and highly effective procedure when performed properly. It involves the application of fixation devices (mostly plates) to the inside of the knee to slow growth in this area. Growth continues on the outside, gradually correcting the valgus deformity.

Hemi-epiphysiodesis (guided growth) for varus knee is a minimally invasive and highly effective surgical procedure for treating genu varum in children. It involves the application of fixation devices (usually plates) to the outer aspect of the knee to slow growth in this area. Growth continues on the inner aspect, gradually correcting the varum.

Hemihypertrophy (or hemihyperplasia or Isolated Lateralized Overgrowth, ILO) is a condition in which one side of the body is larger (bulkier and longer) than the other, causing asymmetry. This excessive growth can affect various tissues, including bone, muscle, fat, and skin. It is often a congenital disorder, meaning it is present from birth and can occur alone or in association with other genetic syndromes.

Hereditary sensorimotor peripheral neuropathies (HSMN) are a group of genetically determined , progressive peripheral neuropathies ; the most common neuropathy in this group is Charcot-Marie-Tooth disease (CMT).

Hip dislocation in patients with peripheral neuropathy is a progressive condition. It is therefore not a congenital dislocation (present at birth) but an acquired condition that can develop progressively, mostly during adolescence, with acetabular dysplasia and subluxation of the femoral head.

Hip dislocation in patients with spina bifida can be congenital, meaning present at birth, or acquired , linked to muscle imbalance around the hip. Treatment of this condition requires centers with specific experience in hip surgery and neuroorthopedics.

Hip dislocation and subluxation are fairly common conditions in children with Cerebral Palsy, with a frequency ranging from 15-20% to 75% in the most severely affected patients. This dislocation is not present at birth , but develops progressively over the years.

In order to prevent and treat hip dislocation early in patients with cerebral palsy, providers are tasked with implementing programs to identify any worsening hip conditions early and direct patients to facilities capable of correcting these conditions before they develop into serious and difficult-to-resolve conditions.

Klippel-Trenaunay syndrome is a rare congenital disorder characterized by a triad of vascular anomalies, limb hypertrophy, and varicose veins. From an orthopedic perspective, appropriate treatment of the lower limb length discrepancy is essential.

A flexed knee is a condition in which the knee joint does not fully extend, whether standing or lying down. It can be due to multiple causes and requires experienced centers to distinguish between the different forms and choose the appropriate treatment.

Valgus knee (or knock knees or genu valgum) is a condition in which children have knees that “touch”. It can be a physiological or pathological condition. In specific cases, it requires appropriate orthopedic treatment.

Genu varum is defined as an alteration of the frontal axis of the lower limb which gives it a bowed or parenthetical appearance (characterised by an increase in the space separating one knee from the other).

Larsen syndrome is a rare genetic disorder characterized by multiple joint dislocations, skeletal abnormalities, and craniofacial dysmorphism. Larsen syndrome primarily affects large joints, such as the hip, knee, and elbow, and may be associated with respiratory and cardiac problems and developmental delays.

Leg Length Discrepancy (LLD) refers to a difference in length between two limbs (upper or lower). If significant Leg Length Discrepancy (LLD)occurs in children (greater than 1 cm), it’s best to contact a center with specific experience in this area, such as OrthoChildren Center.

See the fact sheet “Perthes disease“

OrthoChildren Center specializes in limb lengthening: here you can find the detailed information sheets

Lipomeningocele is a congenital malformation of the neural tube in which the spinal cord does not close completely and a protrusion of fatty tissue (lipoma) and meninges (the membranes that surround the spinal cord) occurs through an opening in the spine , forming a sac of tissue under the skin. This condition can lead to neurological problems and subsequent orthopedic issues.

Macrodactyly is a rare congenital malformation in which one or more fingers or toes are larger than normal. Macrodactyly is part of the PIK3CA-related overgrowth spectrum (PROS) .

Madelung’s deformity is a rare developmental abnormality of the wrist that affects the growth plate of the distal radius, causing an abnormal curvature of the bone and deformity of the wrist.

Marfan syndrome is an autosomal dominant disorder affecting connective tissue, caused by an abnormal production of the protein fibrillin-1, caused by a mutation in the FBN1 gene located on chromosome 15. This condition causes alterations in the eyes, bones, heart, blood vessels, lungs, and central nervous system.

The Monteggia lesion (or fracture) is a fracture of the ulna associated with a dislocation of the radial head. If this lesion is not recognized or is treated inadequately (for example, by treating only the ulna fracture), the radial head dislocation may persist , which will progressively become more difficult to treat.

Children with myelomeningocele (or spina bifida) present a wide spectrum of musculoskeletal problems. Treatment of these orthopedic deformities requires centers with specific experience. See “Spina bifida ” factsheet.

Neurofibromatosis is a group of genetic diseases that primarily affect the nervous system, causing the growth of benign tumors (neurofibromas) along nerves. From an orthopedic perspective , it can cause various pathological conditions, including scoliosis, long bone dysplasia (pseudoarthrosis), and bone growth and axis defects.

Ollier disease, or multiple enchondromatosis, is a rare disorder that affects the bones and cartilage, causing the abnormal growth of enchondromas (benign cartilage tumors) within the bones. The development of these enchondromas can cause bone deformities, reduced growth of one limb compared to the other (leg length discrepancy, LLD), pain, and limited movement.

Perthes disease (or Legg-Calvè-Perthes) is a condition in which an ischemic event affects the vascular supply of the growing femoral head (epiphysis), causing avascular necrosis

Physeal bridge is a lesion of the growth plate in children that causes an alteration in the growth of the bones themselves and therefore a progressive deformity and shortening of the bone.

Posteromedial bowing of the tibia, or congenital tibia recurvata, is a rare malformation that presents at birth with a recurvatus (hyperextension) and valgus (outward angle) curvature of the leg. Treatment requires centers with specific experience, like OrthoChildren Center

In Congenital Femoral Deficiency (CFD), it is important to evaluate the condition of the hip, which may appear completely normal or exhibit mild to severe pathological features. These alterations are generally referred to as Proximal Femoral Focal Deficiency (PFFD) and use the Aitken classification. Treatment of Proximal Femoral Focal Deficiency requires centers with experience.

Radial head dislocation is a condition in which the radial head has lost its normal relationship with the humeral condyle. This condition usually occurs due to acute trauma (associated with an upper limb fracture or isolated) but is sometimes secondary to a congenital or chronic condition (cerebral palsy, skeletal dysplasia, etc.) or an unrecognized past traumatic event.

Recurrent patellar dislocation occurs when the kneecap (patella) displaces from its normal position in the femoral trochlea, and this recurs repeatedly. It is a condition that can cause pain, knee instability, functional limitation, and reduced knee motion.

Skeletal dysplasias are a group of genetic disorders that primarily affect the skeletal system, resulting in impaired bone growth. They are a highly heterogeneous group of conditions, ranging from very mild (sometimes diagnosed in adulthood) to very severe.

Slipped capital femoral epiphysis is a condition in which the femoral head slips relative to the femoral neck. This condition primarily affects adolescents and requires prompt surgical treatment.

Children with spina bifida (myelomeningocele) present a wide spectrum of musculoskeletal problems. Treatment of these orthopedic deformities requires centers with specific experience, like OrthoChildren Center.

Spinal dysraphisms (from the Greek dys = bad, raphe = closure, suture) include a large group of pathologies of varying severity (spina bifida occulta, diastematomelia, lipomeningocele, meningocele, myelomeningocele, caudal regression syndrome) in which there is a developmental anomaly involving the vertebral column and spinal cord (due to an alteration in the closure of the “neural tube”). See the fact sheet ” Tethered cord syndrome “.

SPML (Selective Percutaneous Myofascial Lengthening) is a minimally invasive surgical procedure used to reduce muscle tension that limits movement in patients with Cerebral Palsy. Dr. Lampasi and OrthoChildren Center (Bologna, Italy) are among the international centers performing this procedure.

Sprengel’s deformity (congenital high scapula) is a deformity in which the scapula is positioned higher than normal. It can cause aesthetic or functional changes that are more or less disabling. Treatment requires a center with specific experience, like OrthoChildren Center

SUPERankle or SUPER-Ankle procedure is a complex surgical procedure for foot and ankle reconstruction in cases of congenital malformations, such as fibular hemimelia. The procedure must be performed at centers experienced in treating congenital deficiency, such as OrthoChildren Center. Please refer to the specific information sheet.

The SUPERhip or SUPER-Hip procedure is a complex procedure to correct hip deformities in patients with congenital deficiency (fibular hemimelia, tibial hemimelia, Congenital Short Femur, Congenital Femoral Deficiency (CFD)). Please refer to the specific information sheet on the topic.

The SUPER-Knee or SUPERKnee procedure is a complex procedure to correct knee deformities in limbs affected by congenital deficiency (fibular hemimelia, congenital femoral deficiency, etc.). The procedure must be performed at centers experienced in treating congenital deficiency, such as OrthoChildren Center. Please refer to the specific information sheet.

Tarsal coalitions are malformations in which the tarsal bones (talus, calcaneus, navicular, cuneiform, cuboid), instead of being separated, have one or more connections that limit or block their movement. Treatment requires experienced centers, such as OrthoChildren Center.

Tethered spinal cord syndrome is a condition where the spinal cord is abnormally attached to surrounding tissue. These adhesions cause progressive stretching of the spinal cord as the child grows, resulting in orthopedic problems.

Posteromedial bowing of the tibia, or congenital tibia recurvata, is a rare malformation that presents at birth with a recurvatus (hyperextension) and valgus (outward angle) curvature of the leg. Treatment requires centers with specific experience, like OrthoChildren Center. See the fact sheet “Posteromedial bowing of the tibia”

Tibial hemimelia is a rare congenital malformation in which the tibia (the largest bone in the leg) is partially or completely absent. This causes shortening of the leg and can lead to several other deformities, such as knee instability and clubfoot.

Toe walking is a fairly common condition. A minimally invasive procedure can guarantee excellent results quickly and without extensive scarring.

Congenital vertical talus (or Rocker Bottom Foot) is a complex congenital foot deformity that includes talonavicular dislocation, calcaneal equinus, and midfoot abduction. This form of clubfoot is more difficult to treat than the classic form. It is necessary to contact centers with specific experience and specialized in the Ponseti method, such as OrthoChildren Center.