≤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...
18q-deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, mental retardation, hypotonia, facial and distal ske...
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...
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
The estimated incidence is 1:40,000 with no recognized gender predilection.
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development.
Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
While there can be some overlap in features, they can be primarily classified into the following maj...
Acrodysostosis is a rare skeletal dysplasia characterized by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, mental retardation and deafness.
Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to occur...
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...
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...
Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities, all of which result from entrapment of various fetal body parts in a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a unique deficit.
Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus.
Clinical features of anterior ankle impingement syndrome include painful and limited dorsiflexion and anterior joint line swellin...
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...
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations.
The estimated incidence is 1 case per 65-80,000 pregnancies.
increased paternal age has been proposed 6
Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
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...
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 Mario Bertolotti first described it in 1917. ...
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...
Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises of osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. Recent genetic work has linked this syndrome to ...
Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability.
It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...
Camptocormia (bent spine syndrome or cyphose hystérique) is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when laying down, and is due to isolated atrophy of the paraspinal muscles.
In a small case series (n=16), ...
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
Camptomelic dwarfism, also known as camptomalic dysplasia, is a rare form of skeletal dysplasia.
Camptomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
Diagnosis is usually readily made at birth or with antenatal ultrasound. It is...
Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course.
Common symptoms include extremity pain, muscle weakness, cranial nerve impairment a...
Carpal tunnel syndrome results from compression of the median nerve within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndrome.
Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder
It is characterized by number of features which include:
kleeblattschädel (cloverleaf ...
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 has been ruled out. However, there are some cases in which lesion location and mo...
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...
Cobb syndrome, also called cutaneous vertebral medullary angiomatosis, or spinal arteriovenous metameric syndrome, consists of the presence of a vascular nevus with a spinal vascular malformation of the same body somite (metamere).
The importance of this syndrome is the recognition that cutane...
Complex regional pain syndrome (CRPS), also known as Sudeck atrophy, is a condition which can affect the extremities in a wide clinical spectrum.
Two types of CRPS have been described 8:
type 1: no underlying single nerve lesion (formerly known as reflex sympathetic dystrophy)
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.
Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus, when it is considered a type of...
CREST syndrome (also known as. limited systemic sclerosis or limited scleroderma) is a variant of progressive systemic sclerosis (PSS) and stands for
C - calcinosis
R - Raynaud phenomenon
E - oesophageal dysmotility
S - sclerodactyly
T - telangiectasia
Crouzon syndrome is rare disorder characterized by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exophthalmos
mid facial hypoplasia
It carries an autosomal dominant...
Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy due to pathological compression of the ulnar nerve along its course within the cubital tunnel.
Compression of the ulnar nerve at the elbow is the second most common peripheral neuropathy of the upper extremity...
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 ...
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...
Cyriax syndrome, also known as slipping rib syndrome, occurs when hypermobility of the rib cartilage of the lower ribs slips and moves, leading to pain in lower chest or upper abdomen 1.
This condition may occur at any age, but is reportedly more common in middle-aged adults, and ...
The distal intersection syndrome relates to tenosynovitis of the extensor pollicis longus (EPL) tendon (3rd extensor compartment), where it crosses the extensor carpi radialis longus (ECRL) and brevis (ECRB) tendons (2nd extensor compartment) 1. It is distinct from intersection syndrome which oc...
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses.
The incidence is estimated at ~1:1,000,000 3. There is a recognized male predilection (M:F = 3:1...
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognized male predominance.
Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fr...
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...
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...
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...
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...
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...
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.
Focal dermal hypoplasia syndrome is also known as Goltz syndrome, and is named confusingly similar to Gorlin-Goltz syndrome.
A rare disorder that follows X-linked dominant inheritance pattern. More commonly seen in males than female. Worldwide only 200-300 cases have been reported....
Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen.
There are many types of GSD:
type I: von Gierke disease
type II: Pompe disease
type III: Cori or Forbes disease
type IV: Andersen di...
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...
Grisel syndrome is a rare cause of torticollis that involves subluxation of atlanto-axial joint from inflammatory ligamentous laxity following an infectious process in the head and neck, usually a retropharyngeal abscess.
It usually occurs in infants or young children.
Haglund syndrome refers to the triad (Haglund triad) of:
insertional Achilles tendinopathy
Haglund deformity (i.e. posterosuperior calcaneal exostosis)
This results in pain at the back of the heel. It is associated with calcaneal spurs, and the wearing of high heels (...
Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature 2.
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...
Hamatolunate impingement is an uncommon cause of ulnar-sided wrist pain. The condition occurs most commonly in wrists where there is type II lunate morphology (existence of a medial facet on the distal lunate for articulation with the hamate). Repeated impaction of the opposing articular surface...
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.
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 ...
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...
Hereditary multiple exostoses, also known as diaphyseal aclasis or osteochondromatosis is an autosomal dominant condition, characterized by the development of multiple osteochondromas.
Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomp...
Iliotibial band (friction) syndrome is a common cause of lateral knee pain related to intense physical activity resulting in chronic inflammation.
Commonly affect young patients who are physically active, most often long distance runners or cyclists. The exact prevalence is unknow...
Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur, primarily the quadratus femoris muscle. Narrowing of the distance between these two osseous landmarks (ischiofemoral space) predisposes for and correlates with i...
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 ...
Jaffe-Campanacci syndrome is characterized by:
multiple non-ossifying fibromas of the long bones and jaw
café au lait spots
hypogonadism or cryptorchidism
giant cell granuloma of the jaw
The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...
Kasabach-Merritt syndrome, also known as hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy.
Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.
There is a recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Klippel-Trénaunay-Weber syndrome (KTWS) is a syndrome combination of capillary malformations, soft-tissue or bone hypertrophy, and varicose veins or venous malformations. It is considered an angio-osteo-hypertrophic syndrome.
KTS classically comprises a triad of:
port wine nevi
bony or soft t...
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)
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...
Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder.
The effects are seen mainly on the skeletal system and primarily involves
digits of the hands and feet: phalangeal
Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia.
The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.
It is characterized by many features i...
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
Leprosy, previously known as Hansen's disease, is a chronic infectious disease caused by Mycobacterium leprae and presents mainly in tropical developing countries.
It is most common in tropical developing countries and is endemic in over 100 countries. Worldwide, there is a preval...
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...
Löfgren syndrome is a specific acute clinical presentation of systemic sarcoidosis that usually manifests with lymphadenopathy, fevers, erythema nodosum, and arthritis.
It is important to not confuse this syndrome with Löffler syndrome, as the names are quite similar but the condi...
Madelung disease, also known as Madelung-Launois-Bensaude syndrome or neck lipomatosis or multiple symmetric lipomatosis, is a rare benign entity clinically characterized by the presence of multiple and symmetric, non-encapsulated masses of fatty tissue, usually involving the neck and the upper ...
Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations (hemangiomas).
On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotes...
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:
Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded for by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease.
The estimated prevalence is...
Mazabraud syndrome is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxomas 1-3.
Only 106 cases have been reported in the global literature (as of 2019) 1,3-5. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. The ...
McCune-Albright syndrome (MAS) is a genetic disorder characterized by the association of:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'cafe au lait' spots
Presentation is va...
Medial patellar plica syndrome is one of the conditions that can be associated with the presence of synovial plicae of the knee (in this instance a 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...
Medial tibial stress syndrome (MTSS), also known as shin splints, describes a spectrum of stress injury that occurs at the medial tibia. This term is often used to indicate any type of tibial stress injury or the earlier manifestations of a tibial stress lesion before a fracture component can be...
Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.
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...
Milwaukee shoulder refers to a destructive shoulder arthropathy due to deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis.
Milwaukee shoulder frequently affects older women, often with a history of trauma t...
Morgagni-Stewart-Morel syndrome consists of the triad of:
hyperostosis frontalis interna
excessive hair growth (virilism/hirsutism)
and is also associated with neuropsychiatric conditions. The cause is unclear.
History and etymology
It was first described in 1765 by the Italian ...
Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV.
Incidence estimated at ~1:40,000.
Many cases present at ~2 years of age and have normal intelligence. Cl...
Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysa...
The Nager syndrome (also known as acrofacial dysostosis) is a rare congenital syndrome primarily characterized by facial and skeletal features
Recognized features include:
lower lid ptosis
Nail-patella syndrome (also known as Fong disease, osteo-onychodysostosis, Österreicher-Turner syndrome 10, Turner-Kieser syndrome, and Trauner-Rieger syndrome) is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities.
Olecranon bursitis refers to inflammation of the olecranon bursa. The olecranon bursa is a subcutaneous sac that overlies the olecranon process and contains a small amount of fluid to prevent against injury of subcutaneous tissue and skin from the uncovered bony olecranon.
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...
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.
Otopalatodigital syndrome type I is a rare genetic disorder marked by the association of
and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).
It is ...
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.