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 recessive disease characterised by:
sensory neural hearing loss: typically high frequency 2
anterior lenticonus: most common ocular abnormality; may result in cataracts
perimacular pigmentary changes
flecks around the fovea 2...
Anterior cord syndrome (also known as Beck's syndrome or anterior spinal artery syndrome) is a clinical subset of spinal cord injury syndromes, due to ischaemia/infarction of the anterior two-thirds of the spinal cord, typically sparing posterior third.
Patient present wi...
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.
Carotidynia or (Fay syndrome) is a rare syndrome characterised by neck pain in the region of the carotid bifurcation. There is confusion in the literature as to what this term actually refers to, with some authors suggesting that the term should be reserved for a pain syndrome with no structural...
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 ...
Disc herniation refers to displacement of intervertebral disc material beyond the normal confines of the disc, but involving less than 25% of the circumference (to distinguish it from a disc bulge. A herniation may contain nucleus pulposus, vertebral endplate cartilage, apophyseal bone/osteophyt...
Eagle syndrome refers to symptomatic elongation of the styloid process or calcified stylohyoid ligament 1-2. It is often bilateral. In most cases the cause is not known however the condition is sometimes associated with disorders causing heterotopic calcification such as abnormal Calcium-Phospho...
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...
Gorlin-Goltz syndrome, also known as the basal cell naevus syndrome, is a rare phakomatosis characterised by multiple odontogenic keratocysts, multiple basal cell carcinomas, and other abnormalities.
The condition is thought to occur in ~1 in 60,000 live births while 0.4% of patie...
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(-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...
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...
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 abnormal ciliary structure and/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 (LVAS) 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 (SNHL).
SNHL starts in childhood and...
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.
Patients typically present unwell...
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 with multinodular goiter or nodular Graves' disease 1, as most authors consider it a distinct sub-entity of Graves’ .
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...
Multiple endocrine neoplasia (MEN) syndromes are a collection of syndromes characterised by the presence of, as the name would suggest, multiple endocrine tumours. They are autosomal dominant in inheritance.
MEN I (Wermer syndrome)
MEN II (multiple endocrine adenomatosis)
MEN IIa (Sipple synd...
Multiple endocrine neoplasia (MEN) type I is also known as Wermer syndrome.
Primary hyperparathyroidism is one of the commonest presentations.
The abnormality is related to a tumour suppressor gene located in chromosome 11q13. MEN type I is an autosomal domina...
Multiple endocrine neoplasia (MEN) type IIa, also known as Sipple syndrome, accounts for most cases of MEN II 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 calcit...
Multiple endocrine neoplasia (MEN) type IIb, also known as mucosal neuroma syndrome 3, accounts for only 5% cases of MEN II and is characterised by:
pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal
medullary thyroid cancer: 100% of patients; aggressive, and ma...
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.
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 and is a...
Robin sequence (also called Pierre Robin syndrome or Pierre Robin anamaloid) is a congenital condition characterized by facial abnormalities. Its aetiology has no genetic base, but rather, is reliant on a sequence of events, one following the other.
Robin sequence is the preferred ...
Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), 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...
Samter syndrome, also know as aspirin or analgesic-induced asthma refers to the constellation of 1-2:
allergy to aspirin
nasal polyposis / rhinosinusitis
Treatment and prognosis
Treatment is largely centred around avoiding aspirin, treating underlying asthma and if need be polypectom...
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.
Sjogren 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...
Superior semicircular canal dehiscence syndrome (SCDS) is a recently described inner ear abnormality, where a clinical disequilibrium phenomenon is associated with absence of the bony covering of the superior semicircular canal (SSC).
Notably, this CT finding has also been described in ~10% of ...
Terson syndrome refers to intraocular haemorrhage associated with subarachnoid haemorrhage. It is usually vitreous or retinal in location.
Diagnosis is usually made on fundoscopic evaluation. However, it may be overlooked in the setting of severe trauma and subarachnoid haemorrhage. The presen...
van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae / pits with cleft lip and / or palate.
It is the one of the most common clefting syndromes in humans 1. VWS individuals have a high prevalence of hypodontia.
It carries anau...
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 (VKH) disease is a multisystem disorder characterised by granulomatous panuveitis with exudative retinal detachments that is often associated with neurologic and cutaneous manifestations.
It usually affected those of Asian, Middle Eastern, Asian Indian, Native...
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 mutation in VHL tumour suppressor gene on chromosome 3.
The disease is rare with an estimated prevalence of 1:35,000-50,000...
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...