Items tagged “syndrome”

259 results found
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Müller-Weiss syndrome

Müller-Weiss syndrome, also known as Brailsford disease 3, refers to spontaneous multifactorial adult onset osteonecrosis of the navicular. This syndrome is distinct from Köhler disease, the osteonecrosis of the tarsal navicular bone that occurs in children. Epidemiology It occurs in adults be...
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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...
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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...
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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...
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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...
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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...
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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

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...
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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...
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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-...
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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
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McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease
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Stickler syndrome

Stickler syndrome refers to a group of disorders primarily affecting connective tissue. Epidemiology Its incidence is 1 in 7500 live births 5. Clinical presentation Described features include: Ophthalmologic congenital or early-onset cataract congenital vitreous anomaly, rhegmatogenous re...
Article

Megacystis megaureter syndrome

Megacystis megaureter syndrome describes the radiologic appearance of a large capacity thin-walled bladder and massive primary vesicoureteral reflux. Pathology The pathophysiology of these massively dilated ureters and the large capacity bladder is the constant recycling of large volumes of r...
Article

Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...