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Legius syndrome

Legius syndrome is a neurocutaneous disease, one of the RASopathies, and is characterized by multiple café-au-lait spots, with or without freckles and macrocephaly. Epidemiology More than 200 cases were reported between 2007 and 2013 1,3. Although rare, it is estimated that up to 2% of patien...

Morquio syndrome

Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV. Epidemiology Incidence estimated at ~1:40,000. Clinical presentation Many cases present at ~2 years of age and have normal intelligence. Cl...

Multisystem inflammatory syndrome in children

Multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome (PIMS) is an emerging pediatric disease occurring after prior SARS-CoV-2 infection and is therefore strongly associated with the ongoing COVID-19 pandemic. Terminology The World Health Organiz...

Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities. Clinical presentation There is severe intellectual di...

Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly. Epidemiology Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. Clinical presentation Affected patients usually appear nor...

Heterotaxy syndrome

Heterotaxy syndromes refer to abnormal left/right distribution of thoracic and abdominal organs that is neither situs solitus nor situs inversus. They are frequently associated with congenital heart disease and other visceral abnormalities. Terminology Isomerism implies mirrored organs, and ca...

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterized by early brain overgrowth and body morphogenesis an...

CLOVES syndrome

CLOVES syndrome is an acronym denoting a rare condition consisting of: Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Scoliosis/Spinal anomalies Terminology Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...

Pallister-Hall syndrome

Pallister-Hall syndrome displays a wide range of severity and is characterized by hypothalamic hamartomas seen as a mass at the floor of the third ventricle, posterior to the optic chiasm 3,4. Epidemiology Pallister-Hall syndrome is rare and the exact prevalence is unknown. Patients with posta...

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...

Little league shoulder

Little league shoulder is thought to occur due to overuse damage of the proximal humeral epiphysis/metaphysis, seen typically in young baseball players, especially pitchers. Epidemiology Although it is most commonly seen in baseball players particularly in pitchers, it also presents in adolesc...

Sotos syndrome

Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth. Epidemiology There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...

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

COACH syndrome

The acronym COACH describes a syndrome associated with: C: cerebellar vermis defect (Joubert syndrome) O: oligophrenia A: ataxia C: coloboma H: hepatic fibrosis Epidemiology COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses. Clinical presentation short neck short trunk with protruding abdomen normal IQ spine atlantoaxial instability craniovertebral junction stenosis platyspondyly scoliosis exag...

Hunter syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1. Epidemiology Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...

Parkes Weber syndrome

Parkes Weber syndrome or less commonly F P Weber syndrome is a traditional eponymous denomination of a certain type of angiodysplasia, that would nowadays rather be called a mixed hemolymphatic congenital vascular malformation (CVM) with arteriovenous (AV) shunting, based on the Hamburg classifi...

Hemolytic uremic syndrome

Hemolytic uremic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterized by the triad of renal failure, hemolytic anemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis. There are two forms of this syndrom...

SAPHO syndrome

The SAPHO syndrome is an acronym that refers to a rare syndrome that is manifested by a combined occurrence of 2: S: synovitis A: acne P: pustulosis H: hyperostosis O: osteitis Epidemiology SAPHO classically tends to present in young to middle-aged adults. Presentation in the pediatric po...

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