Items tagged “syndrome”
264 results found
Article
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
Article
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...
Article
Oral-facial-digital syndromes
Oral-facial-digital syndromes (OFDS) are a group of rare genetic developmental disorder that affects the mouth, face, digits and also may cause some problems on the central nervous, kidney and the other organs.
Classification
Some publications have classified at least 13 forms of OFDS based on...
Article
Hydrolethalus syndrome
Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of the fetus which include:
midline malformations
cleft lip + / - palate
CNS malformations
fetal hydrocephalus
agenesis of the corpus callosum
Dandy-Walker malformation
absent midline ...
Article
Thrombocytopenia with absent radius syndrome
Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized by the following two features:
fetal thrombocytopenia
absent fetal radii (bilaterally) with the presence of both thumbs
Epidemiology
The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
Article
Russell-Silver dwarfism
Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism.
Epidemiology
Associations
single umbilical artery
Clinical presentation
intrauterine growth restriction: tends to give an asymmetrical IUGR
postnatal growth restriction
relatively large calvarium: ...
Article
Wolf-Hirschhorn syndrome
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3).
Clinical presentation
There is a large clinical spectrum:
CNS
agenesis of the corpus callosum
hypertelorism
coloboma
seizures 4
craniofacial
c...
Article
Miller-Dieker syndrome
Miller-Dieker syndrome (MDS) is a rare chromosomal anomaly and is one of the conditions considered part of lissencephaly type I (classic) 6. It is the form of lissencephaly that is most recognizable on prenatal imaging due to its severity 5.
Clinical presentation
Features include:
CNS
...
Article
Crouzon syndrome
Crouzon syndrome, also known as craniofacial dysotosis, is rare disorder characterized by premature craniosynostoses.
Pathology
Features include:
abnormal calvarial shape: in severe case can give a "cloverleaf skull"
shallow orbits with exophthalmos
mid facial hypoplasia
bifid uvula
Gen...
Article
Aase-Smith syndrome
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Epidemiology
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases.
Clinical presentation
congenital hyp...
Article
Aarskog syndrome
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.
Epidemiology
Population pre...
Article
Lowe syndrome
Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys.
Epidemiology
It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...
Article
Klinefelter syndrome
Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46.
Epidemiology
The estimated incidence is 0.15-0.2% of live births.
Clinical presentation
the testes are normal prior to puberty and small in post pubertal te...
Article
Loeys-Dietz syndrome
Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder which has many features similar to Marfan syndrome.
The disease is characterized by skeletal manifestations and vasculopathies. Although Loeys-Dietz syndrome shares many similarities with Marfan syndrome, the course is oft...
Article
Sheehan syndrome
Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism. It only occurs in postpartum females who experience large volume hemorrhage and hypovolemic shock, either during delivery or afterward with resultant necrosis of anterior pituitary cells 4.
Epidemiology
Advances in obs...
Article
Juberg-Hayward syndrome
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterized by the association of the following:
growth retardation
microcephaly
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
thumb anomal...
Article
Amyoplasia congenita
Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue.
Epidemiology
The estimated incidence is at 1: 10000 live births. There may be a higher prevalence with twin preg...
Article
Chondroectodermal dysplasia
Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5.
Epidemiology
Associations
congenital cardiac anomalies: may be present in up to ~50% of cases
Clinical spectrum
Clinica...
Unable to process the form. Check for errors and try again.