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...
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 characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
sensorineural hearing loss: typically high frequency 2
anterior lenticonus: most common ...
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 etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio...
Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. This phenomenon is also known as paroxysmal lacrimation or the gustolachrymal reflex. It is caused by a misdirection of the regenerating autonomic...
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...
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 characterized 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 young adults that is primarily characterized by 1,4,6:
inflammatory eye disease (classically interstitial keratitis) 6
audiovestibular dysfunction (similar to Meniere disease) 6
Cogan syndrome is rare and can occur in people of any age and ...
Congenital contractural arachnodactyly (CCA) (also known as Beals syndrome) is a rare connective tissue disorder that bears phenotypic similarities to Marfan syndrome, but is genetically distinct. Affected individuals have arachnodactyly, muscle contractures and ear anomalies, but without any oc...
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:
Frey syndrome (also known as Baillarger syndrome, Dupuy syndrome and auriculotemporal syndrome) is a complication of parotid surgery. It clinically manifests as sweating and reddening in the region of the face supplied by the auriculotemporal nerve. The symptoms typically occur when tasting food...
Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized 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...
Gillespie syndrome is a rare genetic condition presenting as a mydriasis, secondary to an omnipresent partial aniridia. The abnormal iris is bilateral, with a highly-specific scalloped inner margin, due to hypoplasia of the central constrictor pupillae fibers. Associated features include an unch...
Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia) is a complex congenital anomaly characterized 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 tumor syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumors, most notably, tumors in the mandible or maxilla 2.
Approximately 200 cases have been reported in the med...
The clinical syndrome of hypothyroidism is marked by inadequate thyroid hormone production, resulting in a decreased rate of cellular metabolism. It may be primary, in which the dysfunction pertains to the thyroid gland itself, or secondary, due to hypothalamic or pituitary dysfunction 1.
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
Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized 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 due to enlargement of the endolymphatic duct. It is thought to be one of the most common congenital causes of se...
Lemierre syndrome refers to thrombophlebitis of the internal jugular vein(s) 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, ...
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 characterized by the presence of multiple and symmetric, non-encapsulated masses of fatty tissue, usually involving the neck and the upper ...
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:
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 goiter 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 to be on the IgG4-related disease spectrum.
It may also be referred to by numerous other eponymous names as well as the catchy: sicca syndrome without a connective tissue ...
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 female...
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 characterized 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 characterized 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 tumor, typically an adenoma, after surgical resection of the adrenal glands.
Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease, previously known as Samter triad, Samter syndrome, aspirin-induced asthma, or analgesic-induced asthma, refers to the constellation of 1,2:
hypersensitivity to aspirin (and other NSAIDs)
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.
Pancoast syndrome (historically known as Ciuffini-Pancoast-Tobías syndrome, Hare syndrome or variation thereof) results from involvement of the brachial plexus and sympathetic chain by a Pancoast tumor or, less commonly, from other tumors - or even non-malignant disease - involving the lung apex...
Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter 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 hemangioma–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 ca...
Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features:
esophageal webs or hypopharyngeal webs
The condition is more common in women.
Posterior semicircular canal dehiscence syndrome (PSCD) is the presence of vestibuloauditory symptoms secondary to absence of the bony covering of the posterior semicircular canal (PSC).
It is thought to be rare: in a case series of 112 patients with a high riding jugular bulb it ...
The Rieger anomaly refers to the maldevelopment of the anterior chamber of the ocular globe. The iris and cornea do not form correctly, findings including:
hypoplastic iris stroma
corectopia: an off-center pupil in the iris
colobomas of the iris (pseudopolycoria)
Patients are at increased ri...
Ritscher-Schinzel syndrome (RTSC), also known as 3C (cranio-cerebello-cardiac) syndrome, is a rare entity with a variable spectrum of CNS (primarily cerebellar), craniofacial, and congenital heart defects.
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...
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.
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, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva.
Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognized female predilection with F:M ratio of ≈9:1. Pati...
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 orbital fissure syndrome (SOFS) (also known as Rochon–Duvigneaud syndrome) is a rare complication of craniofacial trauma with an orbital fracture that extends to the superior orbital fissure that results in injury to the cranial nerves III, IV, V (ophthalmic branch of the trigeminal ner...
Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC).
Notably, this CT finding has also been described in ~10% of individuals w...
Terson syndrome refers to vitreous hemorrhage associated with subarachnoid hemorrhage, however some authors include retinal hemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid hemorrhage.
Terson syndrome has been reported to occur in 13-50...
Thyrotoxicosis is a hypermetabolic clinical syndrome caused by a pathological excess of circulating free T4 (thyroxine) and/or free T3 (tri-iodothyronine).
Although commonly done, thyrotoxicosis should not be confused with, nor is it synonymous with hyperthyroidism. The latter term...
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 and affected individuals have a high prevalence of hypodontia.
It carries an aut...
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 jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a glomus jugulare tumor, schwannoma, or metastasis 2.
It consists of motor paralysis of:
glossopharyngeal nerve ...
Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterized 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 characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-50,...
Williams syndrome (WS) is characterized 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 is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...
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 high mutation rate and rare instances of germinal mosaic...