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DiGeorge syndrome (DGS) is a condition caused by a microdeletion at location q11.2 of chromosome 22 (thus also called 22q11.2 syndrome). There is a defective development of the third and fourth pharyngeal pouches, leading to thymic and parathyroid hypoplasia (causing T-cell immunodeficiency and hypocalcemia, respectively). Conotruncal anomalies present as congenital heart defects. Other manifestations consist of characteristic facial features, frequent infections, and neuropsychiatric disorders.

Prader-Willi Syndrome and Angelman Syndrome

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are both rare autosomal neurodevelopmental genetic disorders mapped to a specific region of chromosome 15 attributed to genomic imprinting. This means that the phenotype depends on the gender of the parent donating the genes. A paternally derived chromosome 15 with this deletion results in 15q11-13 paternal deletion syndrome, or PWS, whereas a maternally derived chromosome 15 with a similar deletion is associated with AS. Diagnosis is established with genetic testing. Management is mostly supportive and is focused on early intervention for developmental, neurologic, and physical abnormalities.

Down Syndrome

Down syndrome, or trisomy 21, is the most common chromosomal aberration and the most frequent genetic cause of mental retardation. Both boys and girls are affected and have characteristic craniofacial and musculoskeletal features, as well as multiple medical anomalies involving the cardiac, gastrointestinal, ocular, and auditory systems. Characteristic traits include upslanting, almond-shaped eyes with skin covering the inner aspects, broad flattened nasal bridge, small rounded ears, and small mouth with large tongue. Screening for Down syndrome occurs during the 1st and 2nd trimesters of pregnancy and includes both blood tests and prenatal ultrasonography. Ultimately, karyotyping confirms diagnosis in the prenatal or postnatal period. There is no cure for Down syndrome. Treatment is based on the clinical manifestations present; it includes a strong support system and early intervention programs to help with education and development.

Pierre Robin Sequence

Pierre Robin sequence, also known as Pierre Robin syndrome or simply Robin sequence, is a condition in infants that is characterized by a smaller-than-normal mandible, a tongue that retracts back into the throat, and difficulty breathing. The exact etiology of the Pierre Robin sequence is unknown, although some contributing factors have been identified. The abnormal development of the lower jaw during gestation, along with certain genetic mutations, can be the first of a series of steps leading to breathing and feeding problems in the neonate.

VACTERL Association

VACTERL association is a rare disorder that affects multiple body systems in fetal development. There is no clear genetic cause or inheritance pattern for the development of this disorder. The acronym VACTERL stands for the anomalies by which this condition is characterized: Vertebral abnormalities, Anal atresia, Cardiac defects, Tracheoesophageal abnormalities, Renal anomalies, and Limb abnormalities. Cognition is not affected. The diagnosis is one of exclusion in the setting of the presence of at least 3 of the above clinical features. Treatment is based on symptoms and abnormalities present.

CHARGE Syndrome

CHARGE syndrome is a rare genetic condition with autosomal dominant inheritance in which almost all body systems are affected. The acronym CHARGE stands for the constellation of clinical features seen with this condition: Coloboma, Heart defects, Atresia choanae, Growth retardation, Genetic Abnormalities, and Ear abnormalities. Genetic testing confirms the diagnosis. Treatment is symptomatic with management of the airway, heart defects, and feeding ability as the priorities in early life. There is no definitive curative therapy.

Williams Syndrome

Williams syndrome (WS), also known as Williams-Beuren syndrome (WBS), is a genetic disease caused by a microdeletion on chromosome 7. Affected individuals have a characteristic elfin facies and short stature. Cognitive, developmental, and behavioral issues are common. Additionally, cardiovascular, connective tissue, endocrine, and renal anomalies may be present. Genetic testing confirms the diagnosis. Treatment is based on the clinical manifestations. Cardiovascular involvement needs to be followed closely because it is the main cause of mortality.

Fragile X Syndrome

Fragile X syndrome (FXS), also known as Martin-Bell syndrome, is a genetic condition with X-linked inheritance. Both boys and girls may be affected, but the severity is much worse in boys. Characteristic features include a long face, prominent forehead and chin, large ears, flat feet, and large testes post-puberty for boys. Fragile X syndrome is the most common cause of inherited intellectual disability and is also associated with autism. Genetic testing confirms the diagnosis. Treatment is aimed at improving associated symptoms.

Marfan Syndrome

Marfan syndrome is a genetic condition with autosomal dominant inheritance. Marfan syndrome affects the elasticity of connective tissues throughout the body, most notably in the cardiovascular, ocular, and musculoskeletal systems. The skin, lungs, and central nervous system are also affected. Patients are usually tall with long limbs, fingers, and toes, and hypermobile joints. Associated conditions include aortic aneurysm or dissection, mitral valve prolapse, and lens dislocation. Diagnosis is made clinically with set criteria, and genetic testing is done only when it may affect the management. Medical or surgical management is based on clinical manifestations. Cardiovascular involvement is followed closely, as it is the main cause of mortality.

Esophageal Atresia and Tracheoesophageal Fistula

Esophageal atresia is a congenital anomaly in which the upper esophagus is separated from the lower esophagus and ends in a blind pouch. The condition may be isolated or associated with tracheoesophageal fistula, which is an abnormal connection between the trachea and esophagus. The most common congenital tracheoesophageal abnormality is a combination of esophageal atresia and distal tracheoesophageal fistula. The defect manifests early after birth as an inability to feed, regurgitation, choking, and aspiration, and requires surgical correction. Survival is good, but long-term complications are common.

Ehlers-Danlos Syndrome (EDS, Elastic Skin) — Causes and Symptoms

EDS — a clinically heterogeneous syndrome involving a genetic defect in connective tissue structure and synthesis, specifically collagen that affects joints, skin and blood vessels, is a group of inherited disorders characterized by stretchy, fragile skin and extremely flexible joints. An even severe form of the disease involves the blood vessels and is called vascular Ehlers-Danlos syndrome. Prognosis is clearly guided by the type of EDS, however there is no cure for the disease.

Turner Syndrome

Turner syndrome is a genetic condition affecting women, in which 1 X chromosome is partly or completely missing. The classic result is the karyotype 45,XO with a female phenotype. Turner syndrome is associated with decreased sex hormone levels and is the most common cause of primary amenorrhea. Those affected may have a host of medical anomalies involving, but not limited to, the cardiac, renal, reproductive, skeletal, and lymphatic systems. Characteristic appearance is that of a woman with short stature, webbed neck, broad chest with widely spaced nipples, low posterior hairline, and peripheral edema of the hands and feet. Genetic testing confirms the diagnosis. Treatment consists of hormone replacement therapy.

Fetal Alcohol Spectrum Disorder

Fetal alcohol spectrum disorder (FASD) is a group of neonatal pediatric disorders caused by maternal alcohol consumption during pregnancy. The term entails a range of physical and neurodevelopmental effects. Classification is based on severity and clinical presentation. Diagnosis is based on a history of prenatal alcohol exposure and the presence of characteristic physical and developmental abnormalities. Management involves surgical correction of structural anomalies and early initiation of support services to promote best outcomes.

Trisomy 21 07:51 min

Trisomy 21 6 quiz questions

Trisomy 21 1 article
Trisomy 21: Prenatal Screening 03:21 min

Trisomy 21: Prenatal Screening 3 quiz questions

Trisomy 21: Prenatal Screening 1 article
Trisomy 18 and Trisomy 13 05:54 min

Trisomy 18 and Trisomy 13 5 quiz questions

Trisomy 18 and Trisomy 13 1 article
Klinefelter (XXY) and Turner Syndrome (Gonadal Dysgenesis) 07:23 min

Klinefelter (XXY) and Turner Syndrome (Gonadal Dysgenesis) 7 quiz questions

Klinefelter (XXY) and Turner Syndrome (Gonadal Dysgenesis) 1 article
DiGeorge Syndrome 05:00 min

DiGeorge Syndrome 3 quiz questions

DiGeorge Syndrome 1 article
Williams Syndrome 04:25 min

Williams Syndrome 3 quiz questions

Williams Syndrome 1 article
Fragile X Syndrome (FXS, Martin-Bell Syndrome) 03:54 min

Fragile X Syndrome (FXS, Martin-Bell Syndrome) 3 quiz questions

Fragile X Syndrome (FXS, Martin-Bell Syndrome) 1 article
Prader–Willi (PWS) and Angelman Syndrome (AS, Happy Puppet Syndrome) in Children 05:22 min

Prader–Willi (PWS) and Angelman Syndrome (AS, Happy Puppet Syndrome) in Children 4 quiz questions

Prader–Willi (PWS) and Angelman Syndrome (AS, Happy Puppet Syndrome) in Children 1 article
Marfan Syndrome (MFS) 04:44 min

Marfan Syndrome (MFS) 2 quiz questions

Marfan Syndrome (MFS) 1 article
Ehlers-Danlos Syndrome (EDS, Elastic Skin) 05:14 min

Ehlers-Danlos Syndrome (EDS, Elastic Skin) 4 quiz questions

Ehlers-Danlos Syndrome (EDS, Elastic Skin) 1 article
CHARGE and VACTERL 07:42 min

CHARGE and VACTERL 5 quiz questions

CHARGE and VACTERL 3 articles
Treacher-Collins Syndrome (TCS) and Pierre Robin Sequence 06:07 min

Treacher-Collins Syndrome (TCS) and Pierre Robin Sequence 5 quiz questions

Treacher-Collins Syndrome (TCS) and Pierre Robin Sequence 1 article
Fetal Alcohol Syndrome (FAS) 05:47 min

Fetal Alcohol Syndrome (FAS) 5 quiz questions

Fetal Alcohol Syndrome (FAS) 1 article

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Pediatric Genetics

Get to know the most common genetic disorders in children!

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Your Educators of course Pediatric Genetics

Brian Alverson, MD

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