Cowden syndrome, also known as multiple hamartoma syndrome, is characterised 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 naevus, when it is considered a type o...
Cronkhite–Canada syndrome is a type of non-hereditary hamartomatous polyposis syndrome characterised by rash, alopecia, and watery diarrhea.
There is a recognised male predilection. Patients typically are middle age, in their 60th 1.
Patients typically pres...
Crouzon syndrome is rare disorder characterised by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exopthalmos
mid facial hypoplasia
It carries an autosomal dominant ...
Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy which can occur from a pathological compression of the ulnar nerve at the cubital tunnel.
It is the second most common peripheral neuropathy of the upper extremity 1,3.
Ulnar nerve comp...
Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder in which the patient has a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centres. Congenital heart diseases have been described in mor...
The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6.
anorectal malformation or con...
Dandy-Walker variant (DWv) is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation (DWM) and is considered being on the lesser end of the disease spectrum in the Dandy-Walker continuum.
This term was created to include those malformations that do not mee...
Doege-Potter syndrome is a non-islet cell tumour hypoglycemia, secondary to a solitary fibrous tumour (SFT). It is rare, and more associated with malignant SFTs.
Dorsal brainstem syndrome is a rare subset of hypoxic ischaemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features it is often undiagnosed.
Injuries involving the teg...
Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability, and also has numerous multi-system manifestations.
According to the world health organisation (WHO), the approximate worldwide inci...
Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life.
The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures in a fe...
Dressler syndrome (DS) is a delayed immune-mediated or secondary pericarditis developing weeks to months after a myocardial infarction (MI).
Dressler syndrome is not to be confused with pericarditis epistenocardica (which is seen earlier in the post-MI period) and is considered a r...
Duane radial ray syndrome (DRRS) (also known as the Okihiro syndrome) is a rare an autosomal dominant condition characterized by radial ray defects and a Duane anomaly (a form of strabismus with horizontal gaze palsy).
Dyke-Davidoff-Masson syndrome (DDMS) is a condition chararacterised by hemi cerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis.
It is characterised by:
Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterised by osteochondromas arising from the epiphyses.
The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1...
Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of
ectrodactyly +/- syndactyly 1 +/- polydactyly 5
facial clefts: cleft lip and/or palate
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
There is a recognised 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...
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as the Churg-Strauss syndrome (CSS), is a small to medium vessel necrotising pulmonary vasculitis. It is also classified under the spectrum of eosinophilic lung disease and as a type of pulmonary angiitis and granulomatosis.
Epidermal naevus syndrome (ENS), also know as Solomon's syndrome or Feuerstein and Mims syndrome, represent a group of distinct disorders related to the presence of epidermal nevi and extracutaneous anomalies. It is a syndrome linked to mosaicism, with many of them occurring exclusively sporadic...
Facial colliculus syndrome refers to a constellation of neurological signs due to a lesion at the facial colliculus, involving:
abducens nerve (CN VI) nucleus
facial nerve (CN VII) fibres at the genu
medial longitudinal fasciculus
lower motor neuron facial nerve palsy ...
Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterised by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy.
It can be either primary (usually autosomal dominant) or se...
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 adenomatous polyposis syndrome (FAPS) is characterised by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes.
Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
Familial multiple cavernous malformation syndrome(s) are uncommon, accounting for only a minority of cavernous malformations.
It has been more frequently reported in patients of Hispanic descent 1.
The presentation is most commonly with seizures (38-55%) 1 ...
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...
Fat embolism syndrome (FES) is a rare clinical condition caused by circulating fat emboli leading to a multisystemic dysfunction. The classical clinical triad consists of:
It occurs in ~2.5% (range 0.5-4%) of th...
Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with status epilepticus in a previously normal child (or less commonly adult) after a febrile illness.
FIRES has received several names in the literature:
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...
The fetal head sparing theory is one that underpins asymmetrical intra-uterine growth restriction, where the difference between normal head circumference and decreased abdominal circumference is attributed to the fetus's ability to preferentially supply the cerebral, coronary, adrenal and spleni...
Fitz-Hugh-Curtis syndrome (FHCS) refers to the development of a perihepatitis in association with pelvic inflammatory disease (PID).
The prevalence in adults with mild to moderate PID (gonorrhoic) may approximate 4% 10. The prevalence may be higher in genital tuberculosis 12. It ...
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....
Folliculin gene-associated syndrome (FLCN-S) or Birt-Hogg-Dubé (BHD) syndrome is a genetic multisystemic disease mainly characterised by:
multiple lung cysts and secondary spontaneous pneumothoraces
multiple bilateral renal tumours (particularly chromophobe renal cell cancer and oncocytoma)
Foster Kennedy syndrome describes the clinical syndrome of unilateral optic atrophy with contralateral papilloedema caused by an ipsilateral compressive mass lesion.
The syndrome consists of two cardinal features:
ipsilateral optic nerve atrophy presenting with central s...
Fraser syndrome is an extremely rare congenital syndromic anomaly.
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
The syndromic spectrum can comprises of:
syndactyly: often cutaneous
Freeman Sheldon syndrome (FSS) (also known as distal arthrogryposis type IIa) is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is als...
Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterised by midline defects involving the face, head, and central nervous system.
Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
Gasperini syndrome is a rare pontine stroke syndrome that involves the caudal pons tegmentum.
Classically, the syndrome presents with 1-3:
involvement of the CN V nucleus: ipsilateral facial sensory loss
involvement of the CN VI nucleus: ipsilateral impaired eye abducti...
GATA2 deficiency is a germ-line disease expressed as a wide spectrum of phenotypes, including monocytopenia, myelodysplasia, myeloid leukaemias, and lymphoedema. It is a rare cause of pulmonary alveolar proteinosis.
GATA2 deficiency has considerably variable clinical mani...
Gerstmann-Straussler-Scheinker disease is a very rare type of human transmissible spongiform encephalopathy. It manifests with dementia and/or ataxia and is due to a mutation in the prion protein (PRNP) gene, which is inherited in an autosomal dominant pattern.
History and etymology
It is par...
Gerstmann syndrome, also known as angular gyrus syndrome, is a dominant hemisphere stroke syndrome consisting of four components:
agraphia or dysgraphia
acalculia or dyscalculia
Pure Gerstmann syndrome is said to be without aphasia.
History and ety...
Glycogen storage disease (GSD) refers to a number of syndromes which are characterised 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...
Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is a type of glycogen storage disease where there is excess deposition of glycogen primarily in the liver, but also in the kidney and small bowel 1.
It occurs approximately one in every 100,000 live births ...
Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia) is a complex congenital anomaly characterised by abnormalities of the ears, eyes and vertebrae.
The estimated incidence is at 1 in 3000-500...
Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterised by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.
History and etymology
It is named after Manuel ...
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...
Goodpasture syndrome (or antiglomerular basement membrane (anti-GBM) antibody disease) is an autoimmune disease characterised by damage to the alveolar and renal glomerular basement membranes by a cytotoxic antibody. It is type of pulmonary renal syndrome.
Goodpasture syndrome is defined by:
Good syndrome is a rare paraneoplastic syndrome in which a thymoma causes hypogammaglobulinemia and humoral immunodeficiency. It has been estimated to occur in 0.2%–2% of thymomas 2.
low to absent B-cells
T-cell mediated defects
CD4 T-cell lymphopenia
inverted CD4/CD8+ T-cell ratio
Gradenigo syndrome consists of the triad of:
abducens nerve palsy, secondary to involvement of the nerve as it passes through Dorello canal
retro-orbital pain, or pain in the cutaneous distribution of the frontal and maxillary divisions of the trigeminal nerve, due to extensi...
The Greig cephalopolysyndactyly syndrome (GCPS) is a rare a pleiotropic, multiple congenital anomaly syndrome.
It is primarily characterized by:
pre-axial polydactyly (most common 2) or
mixed pre- and post-axial polydactyly
true ocular hypertelorism
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.
Guillain-Barré syndrome (GBS) is defined as a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar ...
A haemoglobinopathy is a genetic disorder which alters the structure of haemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues.
Types of haemoglobinopathies include the following:
sickle cell disease (Hb S)
sickle cell trait (HB AS)
Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.
There are two forms of this syn...
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...
Hamman syndrome, also known as Macklin syndrome, refers to spontaneous pneumomediastinum along with subcutaneous emphysema.
It is a rare entity most often encountered in young adults. It is a known entity peri- and postpartum 3.
The condition is most common...
Heerfordt(-Waldenström) syndrome or uveoparotid fever is a variant of sarcoidosis, comprising of:
ocular involvement (anterior uveitis)
The exact prevalence is unknown, as only isolated case reports exist. Neurologic involvement may occur...
The Heiner syndrome is a rare form of primary pulmonary haemosiderosis associated with an allergy to cow's milk. The syndrome includes:
rectal blood loss with hypochromic microcytic anaemia
pulmonary infiltrates (often recurrent)
HELLP syndrome is a pregnancy-related condition and is an abbreviation for:
elevated liver enzymes and
It is considered a severe and life-threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.
The estimated inciden...
Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy.
It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Hemifacial microsomia (HFM) is the second most common congenital facial anomaly after cleft lip/palate. The condition may vary from mild to severe. Goldenhar syndrome has been described as a variant of HFM, in which vertebral anomalies and epibulbar dermoids were present.
HFM is al...
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 ...
Hemimedullary syndrome, also known as Reinhold syndrome, occurs as a result of the occlusion of the ipsilateral vertebral artery proximal to the posterior inferior cerebellar artery and its anterior spinal artery branches 1-3. This situation causes lateral medullary infarct and medial medullary ...
Hepatopulmonary syndrome (HPS) refers to the combination of
hepatic dysfunction (cirrhosis)
hypoxaemia (alveolar-arterial O2 gradient of >15 mmHg; >20 mmHg in >64 years old patients)
peripheral pulmonary arterial dilatation (due to right to left micro-shunts)
It is estimated to...
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system.
Hereditary multiple exostoses, also known as diaphyseal aclasis, is an autosomal dominant condition, characterised by the development of multiple osteochondromas.
Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in fem...
Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an inherited condition which predisposes to a host of malignancies, including colorectal carcinoma. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation using cl...
Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterised by Müllerian duct anomalies (MDA) associated with mesonephric duct anomalies 3. This entity is also known as obstructed hemivagina and ipsilateral renal anomaly (OHVIRA). It is not to be confused with the Wunderlich syndro...
Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of:
oculocutaneous hypopigmentation (albinism)
abnormal storage of autofluorescent pigment (ceroid or lipofuscin)
typically occurs within lysosomal organelles of the cells of multiple organs and the reti...
Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left and right distribution of the thoracic and abdominal organs which does not entirely correspond to the complete or partial mirror image.
It occurs ...
Heyde syndrome is an association between aortic valve stenosis and gastrointestinal haemorrhage.
The aetiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related...
HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end-stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy.
HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...
HGPPS is a rare autosomal recessive AR congenital anomaly caused by mutation of ROBO3 gene on chromosome 11.
Abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomo...
Hydrolethalus syndrome is a rare lethal genetic syndrome characterised by multiple developmental defects of fetus which include
cleft lip + / - palate
agenesis of the corpus callosum
absent midline stru...
Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of a heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterised by recurrent Staph aureus chest infections, characteristic coarse facial appearance and dental pr...
Hyperperfusion syndrome after carotid endarterectomy (CEA) or carotid artery stenting (CAS) is a rare complication.
Hyperperfusion occurs in ~7.5% (range 1-14%) of patients but only a minority (~1.5%) of patients are symptomatic 1,2, with incidence being reported slightly more af...
Hypomelanosis of Ito, also known as incontinentia pigmentiachromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems.
The prevalence is unknown, being reported since 1 per 8000 patients in a general paediatric hospital 3 to ...
Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure.
It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...
Hypothenar hammer syndrome occurs from trauma to the distal ulnar artery or proximal portion of superficial palmar arch as a result of repetitive trauma to the hypothenar eminence. Originally described in patients using hammers and screwdrivers, it is also seen in various athletes such as basket...
Idiopathic pneumonia syndrome (IPS) refers to diffuse lung injury which can occur following haematopeotic stem cell transplantation where neither an infectious nor non-infectious aetiology can be found.
The incidence of IPS is thought to be around 12% following haematopoetic stem ...
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...
Immune reconstitution inflammatory syndrome (IRIS) is paradoxical deterioration of a pre-existing illness following abrupt improvement in an individual's immune function. It is classically seen in HIV/AIDS patients following initiation of highly active anti-retroviral therapy (HAART). Increasing...
Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, specially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males.
Incontinentia pigmenti is rare and the true pre...
Inferior medial pontine syndrome, also known as Foville syndrome, is one of the brainstem stroke syndromes occurring when there is infarction of the medial inferior aspect of the pons due to occlusion of the paramedian branches of the basilar artery 1-3. This infarction involves the following 1-...
Internuclear ophthalmoplegia (INO) describes a clinical syndrome of impaired adduction in one eye with dissociated horizontal nystagmus of the other abducting eye, due to a lesion in the medial longitudinal fasciculus (MLF) ipsilateral to the eye unable to adduct. It is a common finding in multi...
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 is the characteristic enlargement of one of the ischiopubic synchondroses. While it most commonly a normal variant of the developmental process, it is sometimes thought to be syndromic (then called ischiopubic synchondrosis syndrome or van Neck-Odelberg diseas...
Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Jaffe-Campanacci syndrome is characterised by:
multiple non-ossifying fibromas of the long bones and jaw
café au lait spots
hypogonadism or cryptorchidism
giant cell granuloma of the jaw