Acrocephalosyndactyly syndromes (ACS) is a rare group of disorders collectively characterised 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 majo...
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
Alport syndrome is an X-linked dominant disease characterised by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
sensorineural hearing loss: typically high frequency 2
anterior lenticonus: most commo...
Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo. It occurs secondary to change in posture and typically is associated with nystagmus. The aetiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posteri...
Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. It is caused by a misdirection of the regenerating autonomic fibers to the lacrimal gland instead of to the salivary gland.
The Brown syndrome refers to an inability of a patient to perform an upward gaze while the eye is adducted due to an abnormality of the superior oblique tendon sheath complex.
History and etymology
It was first described by Allan Brown in 1950 1.
Carotidynia, also known as Fay syndrome, is a rare syndrome characterised by neck pain in the region of the carotid bifurcation.
It was classified by the International Headache Society (IHS) in 1988 as an idiopathic neck pain syndrome associated with tenderness over the carotid bifurcation with...
Cogan syndrome is a rare vasculitis of children and young adults which primarily characterised by 1,4,6:
inflammatory eye disease (ocular keratitis, uveitis, scleritis, optic neuritis) 6
audiovestibular symptoms (similar to Meniere disease) 6
However, it can potentially affect a multitude of ...
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:
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...
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...
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...
Heerfordt syndrome, also known as 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....
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...
Hyperparathyroidism-jaw tumour syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumours, most notably, tumours in the mandible or maxilla 2.
Approximately 200 cases have been reported in the ...
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
Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Large vestibular aqueduct syndrome, also known as large endolymphatic sac anomaly, refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct. It is thought to be one of the most common congenital causes of sensorineural hearing loss.
Lemierre syndrome refers to thrombophlebitis of the jugular veins with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess.
Since the advent of antibiotics, the inciden...
Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...
Locked-in syndrome is a condition that can occur as a result of a stroke involving the brainstem; the stroke damages the ventral brainstem, corresponding to the pyramidal bundles.
The infarct is pontine; the midbrain is preserved. The oculomotor nerve III is intact so the...
Madelung disease, also known as Madelung-Launois-Bensaude syndrome or neck lipomatosis or multiple symmetric lipomatosis, is a rare benign entity clinically characterised by the presence of multiple and symmetric, non-encapsulated masses of fatty tissue, usually involving the neck and the upper ...
Marine-Lenhart syndrome refers to a variant of Graves disease where there are coexistent autonomous thyroid nodules. It is better described as Graves disease with coexistent multinodular goitre or nodular Graves disease 1.
The syndrome is rare with reported prevalence somewhere b...
Mikulicz syndrome was considered a form of Sjögren syndrome (type 1) however more recently it is considered in IgG4 related disease spectrum. It is a non-specific inflammatory enlargement of at least two or more of the salivary and lacrimal glands with xerostomia.
It may also be referred to b...
Morning glory disc anomaly (MGDA),also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1.
Morning glory disc anomaly is rare and is more commonly found in females...
Multiple endocrine neoplasia type I (MEN1), also known as Wermer syndrome, is an autosomal dominant genetic disease that results in proliferative lesions in multiple endocrine organs, particularly the pituitary gland, islet cells of the pancreas and parathyroid glands.
There are other multiple...
Multiple endocrine neoplasia (MEN) type IIa, also known as Sipple syndrome, accounts for most cases of MEN2 and is characterised by:
pheochromocytomas: in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patients, aggressive, and may secrete calciton...
Multiple endocrine neoplasia (MEN) type IIb, also known as MEN type 3 (MEN3) 3 or mucosal neuroma syndrome 2, accounts for only 5% cases of MEN2 and is characterised by:
pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patient...
Nelson syndrome is a rare disorder observed in patients with Cushing disease that have undergone bilateral adrenalectomy. It involves enlargement of an existing adrenocorticotropic hormone-secreting pituitary tumour, typically an adenoma, after surgical resection of the adrenal glands.
Nonsteroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease or previously known as Samter syndrome or aspirin or analgesic-induced asthma refers to the constellation of 1-2:
allergy to aspirin
nasal polyposis / rhinosinusitis
In adults, prevalence can ran...
Norrie disease is a rare X-linked inherited cause of congenital bilateral blindness. It can present with a retinal mass (pseudoglioma) and cataracts. It is associated with developmental delay and hearing loss.
Pendred syndrome is an autosomal recessively inherited disorder characterised by a euthyroid goitre associated with sensorineural hearing loss.
It is considered the most common form of syndromic hearing loss and accounts for upwards of 10% of hereditary deafness.
PHACE syndrome, also known as cutaneous haemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of:
P: posterior fossa malformations (e.g. Dandy-Walker malformation)
A: arterial anomalies
C: coarctation of the aorta and ...
Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features:
oesophageal webs or hypopharyngeal webs
The condition is more common in women.
Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes.
The disease predominantly occurs in young adults with a mean age at presentation of 21 years. There may be...
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...
The silent sinus syndrome represents maxillary sinus atelectasis that results in painless enophthalmos, hypoglobus and facial asymmetry 1-3. Some authors restrict the term to patients with no history of sinusitis, trauma or surgery 2.
Silent sinus syndrome usually presents in the ...
Sjögren syndrome is an autoimmune condition of exocrine glands that produce tears and saliva.
Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognised female predilection with F:M ratio of ≈ 9:1. Patients typically present a...
Sulcal artery syndrome is a rare cause of spinal cord infarction involving the territory of one of the sulcal arteries, which are penetrating branches of the anterior spinal artery, each vessel supplying either left or right side of the cord, but not both. The result is an incomplete Brown-Séqua...
Superior semicircular canal dehiscence syndrome (SCDS) is a recently described inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSC).
Notably, this CT finding has also been described in ~10%...
Terson syndrome refers to vitreous haemorrhage associated with subarachnoid haemorrhage, however some authors include retinal haemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid haemorrhage.
Terson syndrome has been reported to occur in 13-5...
Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of 1st and 2nd branchial arches.
The incidence is estimated at approximately 1 in 50,000 live births, with 60% of cases being...
van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae / pits with cleft lip and / or palate.
It is one of the most common clefting syndromes in humans 1. VWS individuals have a high prevalence of hypodontia.
It carries anautoso...
Ventral cord syndrome (also known as anterior cord syndrome) is one of the incomplete cord syndromes and affects the anterior parts of the cord resulting in a pattern of neurological dysfunction dominated by motor paralysis and loss of pain, temperature and autonomic function. Anterior spinal ar...
Vernet syndrome (also known as the jugular foramen syndrome) is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion such as a glomus jugulare tumour or schwannoma. It consists of motor paralysis of:
glossopharyngeal nerve (CN IX)
vagus nerve (CN X)
Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterised by granulomatous panuveitis with exudative retinal detachments that is often associated with neurologic and cutaneous manifestations.
Vogt-Koyanagi-Harada usually affected those of Asian, Middle Eastern, Asian I...
Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-5...
Williams syndrome (WS) is characterised by some or all or the following features:
craniofacial dysmorphism (e.g. elfin facies)
short stature (50% of cases)
mild to moderate mental retardation
supravalvular aortic stenosis 2
pulmonary artery stenosis 3
Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however the underlying pathogenesis yet to be fully elucidated. Obstructive azoopsermia at the level of the epididymis is thought to be the cause of infertility. The commonly refer...
Zimmerman-Laband syndrome is a rare congenital syndrome, characterised primarily by gingival hypertrophy and skeletal abnormalities.
The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with high mutation rate and rare instances of germinal mosaic...