Cachexia is a syndrome of metabolic dysfunction secondary to an underlying disease in which there is depleted skeletal muscle (sarcopenia) which may or may not be accompanied by an absolute loss of body fat.
Cancer cachexia is specifically used to refer to the cachexia associated ...
Gunal-Seber-Basaran syndrome is an exceedingly rare presentation of multiple bone islands, i.e. osteopoikilosis. It is characterized by dacryocystitis due to lacrimal canal stenosis with osteopoikilosis 1-3. This syndrome has an autosomal dominant inheritance 2,3.
History and etymology
Omodysplasia is an extremely rare short-limb skeletal dysplasia characterized by 1:
depressed nasal bridge
short Humerus with hypoplastic distal humeri
Hip spine syndrome is one term used to describe the clinical association between hip osteoarthritis and degenerative lumbar spinal canal stenosis due to overlapping pain distribution.
Patients with hip spine syndrome have hip and lumbar spine degeneration and present wit...
Prefemoral fat pad impingement syndrome, also known as supratrochlear / posterior suprapatellar fat pad impingement syndrome, is one of the fat pad impingement syndromes of the knee, specifically involving the prefemoral fat pad.
Patients present with anterior knee pain e...
Neurogenic thoracic outlet syndrome is the most common cause of thoracic outlet syndrome accounting for approximately 90% of cases. It is caused by compression of the brachial plexus as it passes between the scalenus muscles, over the first rib and posteroinferior to the clavicle before entering...
Snapping scapula syndrome is an uncommon condition where on scapular movement there is pain associated with an audible or palpable grinding, clicking or snapping.
Causes include 1,2:
scapular stabilizer muscular atrophy/fibrosis, e.g. long thoracic nerve i...
Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterized by 1,2:
hypoplasia of pelvis
bowing of femur bone
symmetrical fingernail deficiency 4
tooth anomalies 5
malformed thumbs 8
It is a syndrome in which there is a partial l...
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease. It is similar to Ehlers-Danlos syndrome (EDS), the major differentiator being the general tortuous nature of the larger arteries.
It presents similarly to other collagen disor...
Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
Juvenile hyaline fibromatosis, also known as hyaline fibromatosis syndrome or infantile systemic hyalinosis is a rare autosomal recessive syndrome outlined by painful, abnormal, often deforming deposits of hyalinized fibrous material in the extracellular matrix of the skin, subcutaneous soft tis...
The Van Wyk Grumbach syndrome is characterized by chronic hypothyroidism with high levels of thyroid-stimulating hormone (TSH), delayed bone age, precocious puberty but lacking pubic and axillary hair growth 1.
The acquired form of hypothyroidism is seen in children caused by chr...
Spinoglenoid notch syndrome is caused by compression of suprascapular nerve due to a ganglion cyst at the spinoglenoid notch resulting in shoulder pain and posterior shoulder tenderness.
On clinical examination, there is posterior shoulder tenderness, discomfort in extern...
Transient osteoporosis is a self-limited condition characterized by reparative bone remodeling, which can affect all weight-bearing joints, being most common in the femoral head. For detailed description of that condition see transient ostoporosis of the hip.
Impingement syndrome is a painful encroachment of joint motion caused by protruding bony or soft tissue structures.
Impingement syndromes are common and can occur at any age.
developmental osseous anomalies
Little league shoulder is thought to occur due to overuse damage of the proximal humeral epiphysis/metaphysis, seen typically in young baseball players, especially pitchers.
Although it is most commonly seen in baseball players particularly in pitchers, it also presents in adolesc...
Anterior suprapatellar (quadriceps) fat pad impingement syndrome is a rare cause of anterior knee pain although anterior suprapatellar fat pad edema may often, and possibly more commonly, be incidental 1,2.
The anterior suprapatellar fat pad is enlarged with mass e...
Vaughan-Jackson syndrome describes a rare syndrome of sequential atraumatic extensor tendon ruptures in the hand, usually in the setting of rheumatoid arthritis of the distal radioulnar joint.
The presentation is with reduced extension of the fingers 1-5. Typically, the f...
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1.
Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...
Bone marrow edema syndrome refers to a group of transient, self-limiting clinical entities of unknown cause, which are associated with the presence of bone marrow edema pattern.
These conditions include:
transient osteoporosis of the hip
bone marrow edema syndrome of the foot and ankle
RAPADILINO syndrome is a rare autosomal-recessive syndrome that results from mutations in the RECQL4 gene 1.
RAPADILINO syndrome is a rare condition, prevalence is unknown. It is, however, more common and was first described in Finnish populations 2.
The acronym RAPADI...
Sanjad Sakati syndrome, also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder.
The syndrome is almost exclusively found in people of Arab origin. There is an equal distribution in both sexes.
Bone marrow edema syndrome of the foot and ankle, also known as transient bone marrow edema syndrome of the foot and ankle, refers to the presence of self-limited, patchy bone marrow T2 hyperintensities in the bones of the ankle and/or foot of unknown etiology. It is related to transient osteopo...
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses.
More than 80 cases have been reported in the global literature since its f...
Adductor canal syndrome (also known as adductor canal compression syndrome) is a rare, non-atherosclerotic cause of arterial occlusion and limb ischemia 1. There is compression of the superficial femoral artery (SFA) in the adductor canal.
External compression of the superficial f...
Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities.
It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals.
Males and females are equally affected.
Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A.
The syndrome's key characteristics are:
Cuboid syndrome is a cause of lateral midoot pain, believed to result from abnormal articulation of the cuboid with the calcaneus (calcaneocuboid joint).
Cuboid syndrome presents with lateral foot pain and swelling, often diffuse and similar to an ankle (ligament) sprain ...
Valgus extension overload syndrome, also known as pitcher's elbow, refers to a constellation of symptoms and pathologies commonly seen in overhead throwing athletes secondary to high repetitive tensile, shear and compressive forces generated by the overhead throwing motion.
The syndrome may cor...
Slipping rib syndrome, also known as Cyriax syndrome, occurs when hypermobility of the rib cartilage of the lower ribs slips and moves, leading to pain in the lower chest or upper abdomen 1.
This condition may occur at any age, but is reportedly more common in middle-aged adults, ...
Flat back syndrome (FBS) refers to the decrease or absence of the normal lumbar lordosis resulting primarily in chronic lumbar pain.
Flat back syndrome is a different condition from straight back syndrome and the two should not be confused or conflated.
Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterized by a widespread erythema, edema and ulceration of the hands and feet.
Acute compartment syndrome is a limb and life-threatening surgical emergency. It is a painful condition caused by increased intracompartmental pressure, compromising perfusion and resulting in muscle and nerve damage within that compartment.
Acute compartment syndrome is more comm...
Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.
It is a very rare condition with only 50 cas...
Femoral facial syndrome, also known as femoral hypoplasia-unusual facies syndrome, is a rare congenital syndrome characterized by varying degrees of femoral hypoplasia and facial dysmorphism 1.
Femoral facial syndrome can cause varying degrees of femoral malformation rang...
Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder.
Patients present with a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centers. Congenital heart diseases have...
Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, whereas OS-CS is a multisystem, X-linked dominant disorder.
OS-CS is extremel...
Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles.
Levator ani syndrome is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sac...
Rhupus syndrome is a term traditionally used to describe patients uncommonly having the coexistence of
systemic lupus erythematosus (SLE) and
rheumatoid arthritis (RA)
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder.
The exact prevalence is unknown.
The cardinal features of HANAC syndrome are helpfully described in the name of...
Spondylocostal dysostosis (SCDO) is a rare condition characterized by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...
Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses.
short trunk with protruding abdomen
craniovertebral junction stenosis
Raynaud phenomenon (also known as Raynaud syndrome) describes a localized vasculopathy whereby there is an exaggerated vascular response to cold temperature or emotional stresses.
Raynaud phenomenon is classified as being either 'primary' or idiopathic, or 'secondary' to another un...
Progeria is a term used for any syndrome in which a person is prematurely aged, however, it most commonly refers to Hutchinson-Gilford progeria syndrome (HGPS).
Although the primary clinical manifestations of progeria include short stature and skin changes, the disease is...
Fatco syndrome is a syndrome consisting of
tibial campomelia and
It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance.
Fuhrmann syndrome and Al-Awadi syndrome are said to be similar to FA...
Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1.
Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...
Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection and neoplasia have been ruled out. However, there are some cases in which lesion location and m...
Focal dermal hypoplasia syndrome, is also known as Goltz syndrome, and is not to be confused with the similar-sounding Gorlin-Goltz syndrome.
A rare disorder that follows an X-linked dominant inheritance pattern. More commonly seen in males than females. Worldwide only 200-300 cas...
Camptocormia, also known as bent spine syndrome or cyphose hystérique, is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when lying down, and is due to isolated atrophy of the paraspinal muscles.
In a small case se...
PPP syndrome is the extremely rare association of pancreatitis, panniculitis, and polyarthritis.
Most commonly affects middle-aged male patients with a history of heavy alcohol use 1,2.
In the majority of cases, abdominal symptoms are mild or absent, makin...
Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation.
Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Crowned dens syndrome is an inflammatory condition resulting from crystal deposition in the cruciform and alar ligaments surrounding the dens, appearing as a radiopaque 'crown' surrounding the top of the dens. It typically presents with pain and increased inflammatory markers.
Stevens-Johnson syndrome (SJS) is an acute inflammatory skin condition.
SJS is on a spectrum of disease with toxic epidermal necrolysis syndrome (TENS) at the more severe end. Terminology depends on how much of the body surface area is involved 1,2:
SJS-TENS overlap: 1...
Failed back syndrome refers to persistent leg and/or lumbar back pain after a surgical procedure. The pathophysiology of this syndrome is complex, as often the operation was technically successful.
Other names for failed back syndrome include failed back surgery syndrome, post-lam...
Trochanteric syndrome (greater trochanteric pain syndrome) refers to pain that originates from the lateral hip region.
Bursitis is not necessarily present and the often-used term trochanteric bursitis is therefore not always appropriate 1.
Trochanteric syndrome most ...
Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur.
Ischiofemoral impingement is a rare cause of buttock pain, groin pain, or a snapping hip 6,7.
Females are more affected t...
Medial patellar plica syndrome are symptoms that can be associated with the presence of synovial plicae of the knee (most commonly the medial plica). It can be a common source of anterior knee pain.
While it can affect those of any age, it typically involves the young patients (1s...
The seatbelt syndrome is the constellation of traumatic thoracic, abdominal and/or vertebral column injuries associated with three-point seatbelts 1,2:
lumbar spine fracture
female breast trauma
Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias. Entities included in a differential for the class are:
congenital bowing of the long bones
cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type)
≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including:
Down syndrome (trisomy 21)
asphyxiating thoracic dysplasia (Jeune syndrome)
short rib polydactyly syndromes
chromosome 1q21.1 deletion...
Laurin-Sandrow syndrome is a rare disorder characterized by tetrameric polysyndactlyly.
polysyndactyly of the hands (both post-axial and pre-axial)
mirror polysyndactyly of the feet
absence of the radius and tibia
Preaxial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially).
Preaxial polydactyly is less common than postaxial polydactyly, with an estimated incidence of 1 in 7000.
Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosa...
Elbow synovial fold syndrome refers to a condition where patients experience a cluster of symptoms due to the presence of synovial folds (also known as synovial fringe or plicae).
It tends to be more common in athletic young adults. It is associated with certain sporting activitie...
Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterized by severe osteoporosis and blindness. This disease is frequently mistaken for osteogenesis imperfecta.
This disease is encountered in approximately 1 in 2 million births.
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive.
severe neurologic impairment include small cerebellar vermis and dandy walker malformation
diastasis of sutures
Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune etiology.
LEMS is the second most common neuromuscular junction disease after myasthenia gravis.
Two-thirds of LEMS present as a paraneoplastic syndrome sec...
Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems.
Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature 7.
It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history. There has been no link between severity of disease and age o...
Accessory navicular syndrome occurs when a type II accessory navicular becomes painful due to movement across the pseudo-joint between the ossicle and the navicular bone.
It can be inferred on musculoskeletal ultrasound if a patient's pain is located at a type...
Conus medullaris syndrome is caused by an injury or insult to the conus medullaris and lumbar nerve roots. It is a clinical subset of spinal cord injury syndromes. Injuries at the level of T12 to L2 vertebrae are most likely to result in conus medullaris syndrome.
Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.
There are no formal diagnostic criteria for this disease, but characterist...
Acrodysostosis is a rare skeletal dysplasia characterized by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, intellectual disability and deafness.
Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to ...
Ulnar dimelia or mirror hand syndrome is a rare congenital anomaly of the upper limb characterized by absence of the radial ray (including thumb), duplication of the ulna and duplication of the ulnar halves of the carpals, metacarpals and phalanges 1.
The embryology of mi...
Reactive arthritis (ReA) is a sterile inflammatory monoarticular or oligoarticular arthritis that follows an infection at a different site, commonly enteric or urogenital. It is classified as a type of seronegative spondyloarthropathy.
Reactive arthritis was formerly known as Reite...
Wartenberg syndrome, also known as cheiralgia paresthetica, is due to compression of the superficial branch of the radial nerve in the distal forearm and a rare nerve compression neuropathy.
Patients present with pain and paresthesia along the dorsum of the distal forearm...
Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia.
Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets
Pena and Vaandrager type - intermedi...
Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain.
Although it may be a consideration in younger patients, the entity is considered controversial and has been both supported and disputed since the Italian radiologist Mario Bertolotti (187...
Tietze syndrome is a benign condition characterized by a self-limiting inflammation of the costal cartilages often with hypertrophy. Although often described as such, it is not a costochondritis 9.
The exact incidence of occurrence is not known. It is seen most commonly in the 2nd...
In fat pad impingement syndromes, the etiologies are different for each knee fat pad.
In anterior suprapatellar fat pad impingement syndrome, the cause is usually due to either a developmental cause related to the anatomy of the extensor mechanism or may be related to abnormal mechanics. In thi...
Otopalatodigital syndrome type I is a rare genetic disorder characterized by:
and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).
It is a member of ...
Clasp-knife deformity is relatively common congenital anomaly found at the lumbosacral junction.
When a clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlarged spinous process (knife blade) into the sacral spinal canal, it is called clasp-k...
Bannayan-Zonana syndrome, also known as Bannayan-Riley-Ruvalcaba syndrome, is a rare hamartomatous disorder.
Male predominance is reported 1.
Bannayan-Zonana syndrome is characterized by:
Other findings that...
Familial multiple lipomatosis (FML) is a hereditary syndrome of multiple encapsulated lipomas which are found on the trunk and extremities, with relative sparing of the head and shoulders.
It is clinically distinct from the similarly named multiple symmetric lipomatosis with which...
Pronator teres syndrome (also called pronator syndrome) is one of three common median nerve entrapment syndromes; the other two being anterior interosseous nerve syndrome and the far more common carpal tunnel syndrome. Signs and symptoms result from compression of the median nerve in the upper f...
Ischiopubic synchondrosis asymmetry (also known as van Neck-Odelberg disease) is characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding.
However, some ...
Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy (tunnel syndrome) due to pathological compression of the ulnar nerve along its course within the cubital tunnel.
The compression of the ulnar nerve at the elbow is the second most common peripheral neuropathy ...
Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer.
Affected patients usually appear nor...
Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus.
Common in soccer players and ballet dancers 1.
Clinical features of anterior ankle impingement syndrome include pa...
Goodman syndrome is a type of acrocephalopolysyndactyly (often considered type IV). It is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. The syndrome is inherited as an autosomal re...
Sinus tarsi syndrome (STS) is the clinical syndrome of pain and tenderness of the lateral side of the hindfoot, between the ankle and the heel. Imaging often demonstrates the ligaments and soft tissues in the sinus tarsi are injured.
Sinus tarsi syndrome has been described in danc...
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
Pulled elbow (also known as nursemaid's elbow) is a subluxation of the radial head into the annular ligament, which usually spontaneously or easily reduces and rarely demonstrates abnormal radiographic features. If the clinical presentation is atypical, pulled elbow should be distinguished from ...