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

  Diagnosis probable
Paresh K Desai
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

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.