Items tagged “syndrome”

274 results found
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) or 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 ne...
Article

Crouzon syndrome

Crouzon syndrome 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 Genetics It carries an autosomal dominant...
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. Clinical spectrum Clinical features include: narrowing of thorax with short ribs small and flared ilia triradiate aceta...
Article

Mirror syndrome

Mirror syndrome or triple edema or Ballantyne syndrome is a rare disorder affecting pregnant women. It refers to the unusual association of fetal and placental hydrops with maternal pre-eclampsia and edema. History and etymology It was first described in 1892 by John William Ballantyne.
Article

Pallister Killian syndrome

Pallister-Killian syndrome (PKS) is an extremely rare chromosomal anomaly. Epidemiology It may be more prevalent in births from women of advanced age 4. Clinical presentation Phenotypic expression can significantly vary from multiple anomalies resulting in perinatal death to the more charact...
Article

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical...
Article

Van der Woude syndrome

Van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae/pits with cleft lip and/or palate. It is one of the most common clefting syndromes in humans 1 and affected individuals have a high prevalence of hypodontia. Pathology Genetics It carries an aut...
Article

Duane radial ray syndrome

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).
Article

Jacobsen syndrome

Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Article

Solitary median maxillary central incisor

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation (variant) of holoprosencephaly (HPE). Epidemiology It is estimated to occur in 1:50,000 live births. Pathology It is a complex disorder consisting of multiple, mainly...
Article

Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, usually without an obstructing lesion (but not always). It is usually with associated bronchiectasis.  Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lad...