Androgen insensitivity syndrome (AIS), also known as the testicular feminisation syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
The incidence may vary depending on whether it i...
Asherman syndrome, also known as uterine synechiae, is a condition characterised by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium, and is often associated with infertility.
There is a tendency for the condition to develop soon af...
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 ...
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...
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...
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
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...
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...
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...
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...
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised by the association of the following:
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterised by 47 chromosomes instead of the usual 46.
The estimated incidence is 0.15-0.2% of live births.
the testes are normal prior to puberty and small in post pubertal testes...
Lowe syndrome (also known as the the oculocerebrorenal syndrome of Lowe) is a multi-system disorder characterised by anomalies primarily affecting the eyes, nervous system, and kidneys.
It is an extremely rare, pan-ethnic, x-linked disease, with estimated prevalence in the general po...
McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by
hydrometrocolpos - vaginal atresia
congenital heart disease
Mendelson syndrome or peptic pneumonia refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia.
The etiologic agents is believed to be aspiration of acidic stomach contents, other compounds, e.g. bile, may also play a rol...
Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.
The clinical spectrum can be quite wide and includes:
dermal / cutaneous
severe skin restriction
decreased fetal movement
marked intrauterine gro...
Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome.
Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarise the clinical feat...
Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicoses of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian vein crosses the ureter.
Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.
This along with Down syndrome (T21) and Edward syndrome (T18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.
Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is a commonly missed and potentially-treatable cause of chronic abdominopelvic pain.
It tends to be more common ...
Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.
The diagnosis is made on the combined clinical, biochemical and sonographic grounds. The revised 2003 ASRM/ESHRE Rotterdam consensus cri...
Robinow syndrome is a rare heterogenous genetic disorder with at least two distinct forms.
The syndrome can affects several systems which include:
mesomelic limb shortening: mesomelia
characteristic facies anomalies
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by mental retardation, broad and often angulated thumbs and halluces, and distinctive facial features.
The estimated incidence is 1 in 100,000-125,000 live births 5.
Russell-Silver dwarfism is a very rare syndrome characterised by:
intrauterine growth restriction: tends to give an asymmetrical IUGR
postnatal growth restriction
relatively large calvarium: pseudohydrocephalus
clinodactyly/clinobrachydactyly of the small finger
a typical triangular type fa...
Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments.
The patient may present with non-specific abdominal pain.
At laparoscopy, they are typi...
Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognised types present:
type I: Saldino-Noonan type
type II:: Majewski type
type III: Verma-Naumoff type
type IV: Beemer-Langer type
There may also be other very rare type...
SHORT syndrome refers to an acronym which primarily comprises of the following features:
S: short stature
H: hyperextensibility of joints and/or inguinal hernia
O: ocular depression
R: Rieger anomaly
T: teething delay
In a addition to these there can be numerous associated minor features w...
Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.
The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with...
VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly.
The estimated incidence is 1 in 10,000-40,000 births 3.
The acronym VACTERL derives from:
V: vertebral an...