Alice in Wonderland syndrome, also known as Todd syndrome, is a rare condition affecting the sensory inputs in the brain.
Alice in Wonderland syndrome most common in children with over two-third of cases occurring in the paediatric demographic 1.
Alice in W...
Acrodysotosis, also known as Arkless-Graham syndrome, Maroteaux-Malamut syndrome or acrodysplasia, is a rare genetic disorder affecting bone growth.
The true incidence is not known. There is no known gender predilection. The condition is often detected in early childhood.
Nezelof syndrome is a hereditary primary immunodeficiency state caused by thymic dysplasia, lack of T cell function and normal levels of immunoglobulins.
Nezelof syndrome is extremely rare.
Common clinical features include 4,5
failure to thrive
Dialysis access-associated steal syndrome or haemodialysis access-related hand ischaemia arises as a complication of arteriovenous (AV) access.
Symptomatic dialysis access-associated steal syndrome has been reported in up to 6% of AV access patients ref. Prevalence is higher in br...
Hand-foot-genital syndrome (previously known as hand-foot-uterus syndrome) refers to a hereditary disorder with abnormalities involving the hands and feet and uterus.
Affected patients can have
urogenital abnormalities in females
ectopic localisation of uret...
Autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome) encompasses non-specific symptoms that occur following exposure to inert material (e.g. silicone, aluminium salts), which are thought to trigger an abnormal autoimmune response 1-3. Whether this is association or causation is ...
Cestan-Chenais syndrome is a rare brainstem stroke syndrome with features between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Babinski-Nageotte syndrome 1,2.
Middle clunal nerve entrapment is a potential cause of low back pain. The middle clunal nerves travel beneath the long posterior sacroiliac ligament and this is a potential space for nerve entrapment 1.
Low back pain and leg pain can be caused by entrapment of these nerve...
Cri du chat syndrome is a rare congenital disorder caused by the deletion of the short arm of chromosome 5. A high-pitched monotonous cry is the significant characteristic finding 1.
Cri du chat syndrome is rare with an incidence of 1 in 15,000-50,000 births 1.
Medial tibial crest friction syndrome, also known as medial tibial condyle friction syndrome, is a rare entity characterised by the symptomatic inflammation resulting from extra-capsular friction of the medial collateral ligament (MCL) of the knee on the medial tibial crest 1-3.
Duplication of the pituitary gland (DPG) is a rare developmental anomaly that may occur in an isolated fashion or in combination with other congenital craniofacial anomalies, hence, the term DPG-plus syndrome.
Duplication of the pituitary gland is a very rare disease with a small ...
Anterior inferior cerebellar artery loop or AICA loop refers to an aberrant course of the anterior inferior cerebellar artery (AICA) that enters the internal auditory meatus and loops over the 7th and 8th cranial nerves. This has been associated with audiological, vestibular, and facial symptoms...
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe, treatment-refractory, monogenic, multiorgan, autoinflammatory condition with vasculitic and haematological complications.
VEXAS syndrome is likely to be rare, but also likely to be underdiagnose...
Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive form of insulin resistance syndrome with a distinctive phenotype including elfin facies and severe disturbances of glucose homoeostasis. It is universally fatal in early childhood.
Donohue syndrome is ver...
Platypnoea-orthodeoxia syndrome refers to the concomitant occurrence of dyspnoea and hypoxaemia, respectively, which are precipitated by assuming an upright position and alleviated by assuming a recumbent position 4.
As the name of the syndrome suggests, the hallmark clin...
Broca aphasia, also known as expressive aphasia or motor aphasia, is a type of non-fluent aphasia usually caused by injury (e.g. stroke) to Broca's area and the surrounding frontal fields 1,2.
Broca aphasia has classic effects on speech 1,2:
fluency: non-fluent and effor...
Chudley-McCullough syndrome is an extremely rare autosomal recessive disorder characterised by early-onset sensorineural hearing loss and a distinctive combination of structural brain abnormalities, with relative preservation of psychomotor development.
Pudendal nerve entrapment (PNE) syndrome is a rare and under-diagnosed condition associated with chronic pain, sexual dysfunction and impaired sphincter control due to pudendal nerve compression.
PNE commonly manifests as neuropathic pain in the genitals, perineum or anus...
Orbital apex syndrome, also known as Jacod syndrome, is a constellation of clinical findings, presenting as a result of several potential pathologies that compress or otherwise affect structures passing through the orbital apex.
Presentation is according to the structures...
Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies.
Anomalies that may be recognised at birth or in the first year of life include:
distinct facial profile
ocular hypertelorism, broad eyebrows,...
PIK3CA-related overgrowth spectrum (PROS) is a broad group of segmental overgrowth disorders that can occur with or without associated vascular anomalies, caused by activating mutations in the PIK3CA gene, which are also responsible for the vast majority of isolated lymphatic malformations and s...
Reye syndrome is a rare paediatric condition characterised by acute onset encephalopathy, severe vomiting and fatty liver failure. It typically presents in children recovering from a viral illness, most commonly influenza or chickenpox 1.
Reye syndrome is usually seen between the...
Achard-Thiers syndrome is a rare condition in elderly postmenopausal females, which is illustrated by androgen excess and insulin resistance secondary to type 2 diabetes mellitus.
hirsutism in older females
high serum glucose levels
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 ...
Ablepharon macrostomia syndrome is a very rare genetic disorder characterised by macrostomia, wide mouth and microblepharon.
A few of the clinical features of this syndrome are:
Parkes Weber syndrome is a rare disease, depicted by capillary malformation, venous malformation, arteriovenous malformation and lymphatic malformation in the affected limb, hypertrophy of the bone, as well as soft tissues of the involved limb. Multiple AV malformation of the affected limb will...
Long COVID-19, also known as post-acute sequelae of SARS-CoV-2 infection (PASC) or post COVID-19 condition, is a post-viral syndrome affecting people who have recovered from COVID-19 infection. Symptoms are similar to those experienced by patients with chronic inflammatory response syndrome (CIR...
Multisystemic smooth muscle dysfunction syndrome is a rare genetic disorder caused by mutations in the ACTA2 gene, resulting in intracranial steno-occlusive disease and aortic dissection or aneurysm, among other complications.
Most cases are diagnosed in childhood 1.
Auriculocondylar syndrome is a rare congenital syndrome primarily characterised by malformed ears and mandibular condyle aplasia/hypoplasia.
This is an autosomal dominant genetic disease resulting from GNAI3 or PLCB4 gene defects. This affects facial development especially the 1st an...
Gunal-Seber-Basaran syndrome is an exceedingly rare presentation of multiple bone islands, i.e. osteopoikilosis. It is characterised by dacryocystitis due to lacrimal canal stenosis with osteopoikilosis 1-3. This syndrome has an autosomal dominant inheritance 2,3.
History and etymology
Elsberg syndrome is an established but rarely recognised cause of cauda equina syndrome and lower thoracic myelitis, presumed to be associated with an infectious aetiology.
Elsberg syndrome is likely responsible for 10% of combined cauda equina syndrome and myelitis 1.
Omodysplasia is an extremely rare short-limb skeletal dysplasia characterised 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...
The post cardiac arrest syndrome (PCAS) describes the clinicopathological state that manifests following most cardiac arrests. Clinically, it is manifested by a combination of neurological disturbance, multiorgan dysfunction and a systemic inflammatory response syndrome-like state.
Godtfredsen syndrome is a rare syndrome of abducens and hypoglossal nerve palsies that localises to a clival mass.
The classic clinical presentation includes 1-3:
abducens nerve palsy: diplopia worse when horizontal gaze is directed towards the affected side
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 (nTOS) 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 e...
McCleery syndrome is a subtype of venous thoracic outlet syndrome with symptoms resulting from compression of the subclavian vein without thrombosis (in contrast to Paget-Schroetter syndrome).
Patients with McCleery syndrome present with intermittent obstruction of the s...
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 stabiliser muscular atrophy/fibrosis, e.g. long thoracic nerve i...
Post-polypectomy coagulation syndrome occurs during a colonoscopic polypectomy procedure when electrocoagulation injury causes a transmural burn to the colon without radiographic evidence of perforation 1,2.
Post-polypectomy coagulation syndrome is also known as post-polypectomy ...
Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterised 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...
Megalocornea is a rare bilateral congenital ocular defect characterised by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3.
Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with mult...
Mercedes Benz pattern craniosynostosis also known as pure bilateral lambdoid and sagittal synostosis (BLSS) is a pattern of craniosynostosis 1,2.
The estimated incidence is at around 0.3 - 0.7 % 3.
Cognitive function is grossly normal. Dolichocephalic hea...
Multisystem inflammatory syndrome in children (MIS-C) or paediatric inflammatory multisystem syndrome (PIMS) is an emerging paediatric disease occurring after prior SARS-CoV-2 infection and is therefore strongly associated with the ongoing COVID-19 pandemic.
The World Health Organ...
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.
Short lasting unilateral neuralgiform headache attacks can present with either conjunctival injection and tearing (SUNCT) or with cranial autonomic symptoms (SUNA) are rare headache syndromes that belong to a larger group of headaches known as trigeminal autonomic cephalgia and can present very ...
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...
Wernekinck commissure syndrome (sometimes spelt Wernekink) is a rare brainstem syndrome caused by lesions (usually infarcts) involving the decussation of the superior cerebellar peduncles (Wernekink commissure) at the caudal midbrain.
The syndrome is characterised by bila...
Tapia syndrome , also called matador's disease, is a rare syndrome that is characterised by unilateral paralysis of the tongue and vocal cords. Although the problem typically occurs after anaesthetic airway management or manipulation, it can be due to central causes in rare cases 11. The syndro...
Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability 3,7, anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were ...
Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4.
Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramni...
Legius syndrome is a neurocutaneous disease, one of the RASopathies, and is characterised by multiple café-au-lait spots, with or without freckles and macrocephaly.
More than 200 cases were reported between 2007 and 2013 1,3.
Although rare, it is estimated that up to 2% of patien...
Riley-Day syndrome, also known as familial dysautonomia, is a rare neurodevelopmental genetic autosomal recessive disorder that primarily affects the autonomic nervous system 1,9.
Familial dysautonomia is more common in Ashkenazi Jews 1.
Posterior nutcracker syndrome is a rare vascular compression disorder, in which a retroaortic left renal vein is trapped between the aorta and the vertebral column.
The most reported clinical manifestation is microscopic or macroscopic haematuria.
Cerebellar, hippocampal, and basal nuclei transient oedema with restricted diffusion (CHANTER) syndrome is a recently described constellation of imaging findings in adults with opioid neurotoxicity. It is characterised by cytotoxic oedema in the bilateral hippocampi and cerebellar cortices, and ...
Paediatric opioid use‐associated neurotoxicity with cerebellar oedema (POUNCE) syndrome is a toxic encephalopathy in children with opioid overdose that features prominent cerebellar oedema. Cerebellar predominance, along with variable supratentorial involvement, appears to be a distinct pattern ...
Reversible acute cerebellar toxicity (REACT) syndrome is a potentially reversible acute encephalopathic syndrome 1,2.
REACT is a rare syndrome that has been associated with several opioid and chemotherapeutic agents, including Minnelide 1,2.
The Van Wyk Grumbach syndrome is characterised 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...
Delirium, also known as acute brain failure, is an acute syndrome characterised by impaired intellect, awareness and concentration. Typically, the cognitive impairment fluctuates throughout the day. In contrast to dementia, delirium tends to be reversible.
The number of synonyms fo...
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...
Keutel syndrome is an extremely rare inherited condition.
It is characterised by:
cartilage calcification of:
trachea - with resultant tracheobronchial stenosis
pulmonary arterial stenoses
brachytelephalangism (short fingers and nails that re...
CHEDDA syndrome stands for congenital hypotonia, epilepsy, developmental delay and digital anomalies. Is a newly discovered neurodevelopmental syndrome associated with mutations in a conserved histidine-rich motif within Atrophin-1 (ATN-1).1
CHEDDA syndrome is very rare, with only...
Transient osteoporosis is a self-limited condition characterised by reparative bone remodelling, which can affect all weight-bearing joints, being most common in the femoral head (see transient osteoporosis of the hip).
Typical symptoms are pain with sudden onset in the ...
There are several different impingement syndromes of and around the hip, which are all characterised by a painful reduction of motion in the hip joint 1:
femoroacetabular impingement (FAI)
subspine (anterior inferior iliac spine) impingement
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...
Bile plug syndrome, also known as inspissated bile syndrome, is an uncommon cause of jaundice in neonates. Refers to a rare extrahepatic mechanical obstruction of the major bile duct in the perinatal period caused by viscous bile (sludge) within its lumen 3.
Anterior suprapatellar (quadriceps) fat pad impingement syndrome is a controversial cause of anterior knee pain although anterior suprapatellar fat pad oedema may often, and possibly more commonly, be incidental 1,2.
Patients present with anterior knee pain and with the ...
Toxic shock syndrome (TSS) is a severe bacterial-toxin mediated condition, characterised by an initial soft tissue infection, which rapidly progresses to systemic disease and circulatory collapse 5. It is due to a Gram positive infection, most frequently Staphylococcus aureus or Streptococcus py...
Central herniation is the subtype of downward transtentorial herniation of the brain that involves descent of the diencephalon and midbrain. It usually occurs with other types of downward herniation such as uncal herniation.
The clinical syndrome of central herniation c...
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...
Small for size syndrome (SFSS) is a clinical syndrome caused by the transplantation of a liver graft that is too small for a recipient. It occurs when the graft to recipient weight ratio (GRWR) is less than 0.8% or a graft volume to standard liver volume ratio (GV/SLV) is less than 35%.
Lesch-Nyhan syndrome is a rare X-linked genetic disease caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Affects 1 per 380,000 individuals, which are nearly all male given the X-linked inheritance 1.
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterised 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...
Computer vision syndrome is a condition that affects primarily workers who use computers (including tablets and other devices with computer screens) many hours a day with symptoms that can include blurred vision, eye strain, and headache.
Computer vision syndrome is a growing phen...
Bone marrow oedema syndrome refers to a group of transient, self-limiting clinical entities of unknown cause, which are associated with the presence of bone marrow oedema pattern.
These conditions include:
transient osteoporosis of the hip
bone marrow oedema syndrome of the foot and ankle
Myalgic encephalomyelitis/chronic fatigue syndrome or ME/CFS, is a complex organic disorder, characterised by profound fatigue and associated marked impairment of both physical and mental functioning. Its underlying aetiology is undetermined and a curative treatment remains elusive.
Anterior resection syndrome refers to wide spectrum of symptoms which develop post-sphincter preserving rectal resection for rectal cancer.
Pelvic radiotherapy is a known risk factor to develop anterior resection syndrome.
There have been reports that up to 47% of patients who un...
Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close name...
The severe acute respiratory syndrome (SARS) is a zoonotic illness caused by severe acute respiratory syndrome-related coronavirus (SARS-CoV-1), a coronavirus. The disease was first seen in the city of Foshan in Guangdong Province in China in 2002 and was traced back to the Himalayan (masked) p...
Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance.
The syndrome presents initially with type 1 diabetes mellitus, followed by optic atrophy, diabe...
Episodic angioedema with eosinophilia (EAE), also known as Gleich syndrome, is a rare condition presenting as a self-limiting cyclic urticaria, fever, angioedema, weight gain and marked eosinophilia, with 3-4 weekly episodes 1.
Episodic angioedema with eosinophilia is rare, only a...
Trisomy 8 mosaicism or Warkany syndrome is a less severe variant of trisomy 8 and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. They are more likely to survive into childhood and adulthood but can exh...
Big black brain is a radiologic pattern unique to infants and toddlers in the context of traumatic brain injury, most frequently due to abusive head trauma.
The CT presentation is a parenchymal hypodensity and uniform loss of gray-white matter differentiation of the entire hemisphere, associat...
Perry syndrome is a rare, progressive, hereditary neurodegenerative movement disorder and TDP-43 proteinopathy.
Perry syndrome is considered to be very rare, generally isolated to select families who carry the mutation implicated in the disease 1,2. In one study, the age on onset ...
Agraphia represents acquired impairments of writing ability secondary to damage or dysfunction of the central nervous system. Impairments caused solely by motor dysfunction (e.g. hand paresis or tremor) are not considered to be forms of agraphia 1.
Agraphia is rarely an i...
Alexia (or acquired dyslexia) is a neurological term refers to an acquired impairment of reading resulting from damage of critical brain areas.
Alexia can manifest itself as an impairment of oral reading and reading comprehension alike and can occur in combination with va...
Obstructive sleep apnoea (OSA), also known as obstructive sleep apnoea syndrome (OSAS), is a disorder characterised by repetitive episodes of total (i.e. apnoeas) or reduction (i.e. hypopnoeas) in ventilation due to total or partial collapse of the upper airway during sleep.
This condition is d...
Shapiro syndrome is a very rare condition characterised by the triad of episodic hypothermia, hyperhidrosis, and agenesis of the corpus callosum 1. A similar syndrome, characterised by episodic hyperthermia and agenesis of the corpus callosum, has been termed reverse Shapiro syndrome 2.
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...
Schindler disease is a rare lysosomal storage disorder characterised by deficiency of alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B).
It is a rare disease with autosomal recessive inheritance.
Age and severity of presentation depends ...
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.