Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder.
congenital hypoplastic anaemia - fetal anaemia
cleft lip, cleft palate
hydrocephalus (due to Dandy-Walker anomaly)
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
The estimated incidence is 1:40,000 with no recognised gender predilection.
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development.
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...
The Adams-Oliver syndrome (AOS) is a rare disorder characterised by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects.
polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3
Amelia refers to a skeletal dysplasia characterised by the complete absence of upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocoele and diaphragmatic hernias 3.
Amelia is a very rare congenital anomalies with incidence...
Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities, all of which result from entrapment of various fetal body parts in a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a unique deficit.
Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterised by skull and limb malformations.
The estimated incidence is at 1:65-80,000 pregnancies.
Thought to occur from a defect on the fibroblast growth factor receptor...
Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterised by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies.
markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound.
Barth syndrome (BTHS), also referred to as 3-methylglutaconic aciduria type II is an extremely rare X-linked multi-system disorder that is usually diagnosed in infancy.
It is characterised by:
fetal cardiomyopathy: (dilated fetal cardiomyopathy (DCM) +/- endocardial fibroelastosis (EFE) +/- le...
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
Carpenter syndrome, also called acrocephalopolysyndactyly type II (ACPS type II) is an extremely rare autosomal recessive congenital disorder
It is characterized by number of features which include:
kleeblattschädel (cloverleaf ...
CHILD syndrome is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. It comprises of:
Ch: congenital hemidysplasia
I: ichthyosiform erythroderma
develops at or shortly after birth
unilateral erythema and scaling, with a distinct demarcation in the middl...
Congenital high airways obstruction syndrome (CHAOS) refers to a rare, often lethal, congenital laryngotracheal condition and is primarily characterised by obstruction to the fetal upper airway.
CHAOS can be of three possible types 2:
complete laryngeal atresia without an oesophagea...
Crouzon syndrome is rare disorder characterised by premature craniosynostoses.
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exopthalmos
mid facial hypoplasia
It carries an autosomal dominant ...
The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6.
anorectal malformation or con...
Dandy-Walker variant (DWv) is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation (DWM) and is considered being on the lesser end of the disease spectrum in the Dandy-Walker continuum.
This term was created to include those malformations that do not mee...
Duane radial ray syndrome (DRRS) (also known as the Okihiro syndrome) is a rare an autosomal dominant condition characterized by radial ray defects and a Duane anomaly (a form of strabismus with horizontal gaze palsy).
Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of
ectrodactyly +/- syndactyly 1 +/- polydactyly 5
facial clefts: cleft lip and/or palate
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
The fetal head sparing theory is one that underpins asymmetrical intra-uterine growth restriction, where the difference between normal head circumference and decreased abdominal circumference is attributed to the fetus's ability to preferentially supply the cerebral, coronary, adrenal and spleni...
Fraser syndrome is an extremely rare congenital syndromic anomaly.
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
The syndromic spectrum can comprises of:
syndactyly: often cutaneous
Freeman Sheldon syndrome (FSS) (also known as distal arthrogryposis type IIa) is a congenital condition where multiple joint contractures are a key feature. Affected individuals are known to have a characteristic facial expression resembling that of a whistling face and hence the syndrome is als...
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...
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...
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...
The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...
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
Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia.
The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.
It is characterised by many features i...
Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterised by the association of omphalocele and cleft palate.
Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition 1.
History and etymolog...
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
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterised by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.
There is recognised strong female predi...
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...
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.
Polydactyly (less commonly called hyperdactyly) refers to the situation where there are more than the usual number of digits (five) in a hand or foot. It can be broadly classified as:
pre-axial polydactyly: extra digit(s) towards the thumb/hallux (radially)
post-axial polydactyly: extra digit(...
Post-axial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th toe.
Post-axial polydactyly is more common than pre-axial polydactyly, with an estimated incidence of 1 in 3000.
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
intrauterine growth restriction
postnatal growth retardation
failure to thrive
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...
SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal, brain and cutaneous anomalies.
The syndrome results from a mutation in ...
The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly.
Its main features include:
congenital limb abnormalities
congenital heart defects
History and etymology
Seckel syndrome is an autosomal recessive congenital dwarfing disorder.
The estimated incidence is ~ 1:10,000. There is no recognised gender predilection.
It is clinically characterised by many features including
intrauterine growth restriction (IUGR)
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...
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency is an inborn error of cholesterol synthesis.
The estimated incidence is at 1:20000-40000 live births. Prevalence may be greater in Nordic countries.
The condition often results f...
Spondylocostal dysostosis (SCDO) is a rare condition characterised by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...
Stickler syndrome refers to a group of disorders primarily affecting connective tissue.
Several gene mutations have been idntified dependent on specific sub types which include:
Stickler syndrome type I: COL2A1
Stickler syndrome type II: COL9A1
Stickler syndrome type III: COL11A1
Thanatophoric dysplasia (TD) is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.
The estimated incidence is around 1:25,000-50,000 3.
It results from a mutation coding for the fibroblas...
Thrombocytopenia with absent radius (TAR) syndrome is primarily characterised by the following two features:
absent fetal radii (bilaterally) with the presence of both thumbs
The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
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...
Twin embolisation syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin.
It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischaemic st...
Twin to twin transfusion syndrome (TTTS) is a potential complication that can occur in a monochorionic twin (either MCDA or MCMA) pregnancy.
This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies giving an estimated prevalence of ~1:2000 of all pregnancie...
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...
Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by:
fetal hydrocephalus: almost always present
neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterised by partial deletion of the p arm of chromosome 4 (4p16.3).
agenesis of the corpus callosum
cleft lip + / - palate...