Items tagged “syndrome”
264 results found
Article
Coffin-Lowry syndrome
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
Epidemiology
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
Clinical presentation
It is characterized by a numb...
Article
Fraser syndrome
Fraser syndrome is an extremely rare congenital syndromic anomaly.
Epidemiology
The estimated incidence is at around 0.04:10,000 live-born infants and 1:10,000 stillbirths.
Clinical spectrum
The syndromic spectrum can comprise of:
cryptophthalmos
syndactyly: often cutaneous
tracheal atre...
Article
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.
Epidemiology
There is a recognized strong female predile...
Article
Müller-Weiss syndrome
Müller-Weiss syndrome, also known as Brailsford disease 3, refers to spontaneous multifactorial adult onset osteonecrosis of the tarsal navicular. This syndrome is distinct from Köhler disease, the osteonecrosis of the tarsal navicular bone that occurs in children.
Epidemiology
It occurs in ad...
Article
Fetal warfarin syndrome
Fetal warfarin syndrome (FWS) is a rare condition which can occur as a result of fetal exposure to maternal ingestion of warfarin during pregnancy.
Clinical presentation
Reported clinical features include:
facial anomalies
nasal bone hypoplasia
nasal bridge depression
skeletal anomalies
s...
Article
Congenital rubella syndrome
Congenital rubella syndrome is a spectrum of congenital abnormalities that result from primary maternal infection with the rubella virus. It falls under the TORCH group of infections.
It is important to note that reinfection/reactivation of maternal infection has a significantly lower risk of f...
Case
Baastrup syndrome
Published
12 Apr 2011
56% complete
MRI
Article
Fryns syndrome
Fryns syndrome (FS) is a rare congenital disorder which can have significant phenotypic variability but is primarily characterized by cranio-facial anomalies, diarphagmatic defects and distal limb anomalies.
Epidemiology
Incidence is estimated at 1:15,000 live births.
Clinical presentation
T...
Article
Lethal multiple pterygium syndrome
Lethal multiple pterygium syndrome (LMPS) is a lethal subtype of the multiple pterygium syndrome.
Epidemiology
Associations
polyhydramnios
congenital cardiac anomalies 10
omphalocele 7
Pathology
It is primarily characterized by the presence of pterygia (or wings) present in two or more bo...
Article
Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Article
Freeman Sheldon syndrome
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...
Article
Short rib polydactyly syndrome
Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized 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...
Article
VACTERL-H association
The VACTERL-H association is a rare non-random association which bears the features of the standard VACTERL association with added fetal hydrocephalus.
Unlike the standard VACTERL association which is sporadic, the VACTERL-H is hereditary with both X-linked 3 and autosomal recessive 2 inheritan...
Article
Herlyn-Werner-Wunderlich syndrome
Herlyn-Werner-Wunderlich (HWW) syndrome, is a rare anomaly characterized 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 syndrom...
Article
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome.
Clinical presentation
Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarize the clinical feat...
Article
Fetal valproate syndrome
Fetal valproate syndrome (FVS) is a potential embryopathy that can occur as a result from maternal intake of valproic acid (sodium valproate) during pregnancy.
Clinical presentation
There is a wide clinical spectrum which includes
neural tube defects
intellectual disability
craniofacial ano...
Article
Acrocephalopolysyndactyly
Acrocephalopolysyndactyly (ACPS) syndrome is comprised of a rare group of disorders collectively characterized by:
calvarial anomalies: e.g. craniosynostoses
digital anomalies: syndactyly and polydactyly
While there can be some overlap in features, they can be primarily classified into the fo...
Article
Pellegrini-Stieda syndrome
Pellegrini-Stieda syndrome refers to the presence of characteristic medial knee pain in the presence of previous medial collateral ligament injury and a Pellegrini-Stieda lesion (most of which are asymptomatic).
History and etymology
It is named after Italian surgeon Augusto Pellegrini (1877-...
Article
Larsen syndrome
Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia.
Epidemiology
The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.
Clinical presentation
It is characterized by many features i...
Article
MURCS association
MURCS association refers to the combination of:
MU: Müllerian duct aplasia
R: renal aplasia /renal agenesis
CS: cervicothoracic somite dysplasia
See also
Mayer-Rokitansky-Kuster-Hauser syndrome