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Anorectal atresia refers to a spectrum of congenital anorectal malformations with an unclear etiology. These anomalies range from a simple imperforate anus in an otherwise normal anorectal region to complex anomalies involving the urogenital system. Anorectal atresia is sometimes seen as an isolated finding, but it may also occur as part of a multi-organ syndrome. Diagnosis is often made during initial newborn examination or after a delay in passage of meconium for over 24 hours after birth. Prognosis varies based on complexity. Treatment is primarily surgical.

Treacher Collins Syndrome

Treacher Collins syndrome is a rare genetic condition with autosomal dominant inheritance. Treacher Collins syndrome is also referred to as mandibulofacial dysostosis or Franceschetti syndrome and is characterized by significant craniofacial deformities and conductive hearing loss. Treacher Collins syndrome is strictly a physical disease and does not affect cognition or other spheres of development. Diagnosis is confirmed with genetic testing. Management of the airway, feeding ability, and hearing loss are the primary concerns in the first few years of life. Ultimately, facial reconstructive surgery is needed. Life expectancy is normal.

Klinefelter Syndrome

Klinefelter syndrome is a chromosomal aneuploidy characterized by the presence of 1 or more extra X chromosomes in a male karyotype, most commonly leading to karyotype 47,XXY. Klinefelter syndrome is associated with decreased levels of testosterone and is the most common cause of congenital hypogonadism. Symptoms are often not noticed until adolescence or adulthood. Individuals with this condition tend to present as tall, phenotypic men with small testes, decreased body hair, gynecomastia, and infertility. Treatment consists of life-long testosterone replacement therapy.

Edwards Syndrome (Trisomy 18)

Edwards syndrome, or trisomy 18, is a genetic syndrome caused by the presence of an extra chromosome 18. The extra chromosome is either from 3 full copies of chromosome 18 or an additional segment of chromosome 18. As the 2nd most common trisomy, Edwards syndrome is seen in 1 out of every 5,500 live births and increases with maternal age. Many cases are detected prenatally with maternal screening and ultrasound findings. Abnormalities include intrauterine growth restriction (IUGR), overlapping fingers, typical craniofacial features, rocker-bottom feet, and congenital heart defects. Trisomy 18 frequently results in fetal loss. For term pregnancies, most deaths occur during the 1st 6 months of life. Delivery in a specialized center is recommended for full-term pregnancies and intervention is based on associated abnormalities.

Patau Syndrome (Trisomy 13)

Trisomy 13, or Patau syndrome, is a genetic syndrome caused by the presence of 3 copies of chromosome 13. As the 3rd most common trisomy, Patau syndrome has an incidence of 1 in 10,000 live births and is more common in women. Most cases of Patau syndrome are diagnosed prenatally by maternal screening and ultrasound. More than half of the pregnancies result in spontaneous abortions. If pregnancy reaches term, it is recommended that a specialized center handle delivery and neonatal care. In the neonate, findings include craniofacial and cardiac malformations, severe intellectual disability, and greatly reduced life expectancy. Most babies do not survive beyond 3 months. With no treatment available and a null expectancy of survival, the family is given supportive management and resources to navigate through the natural course of the disease.

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders that are characterized by hyperextensible skin, hypermobile joints, and fragility of the skin and connective tissue. The syndrome is due to genetic defects that affect collagen processing and synthesis. There are many subtypes that vary in terms of inheritance, severity, and clinical presentation. The diagnosis is mainly clinical but is confirmed via genetic testing. There is no curative treatment. Management involves understanding the many complications of the disease and the interdisciplinary prevention and treatment of specific symptoms.

Prenatal Care

Prenatal care is a systematic and periodic assessment of pregnant women during gestation to assure the best health outcome for the mother and her fetus. Prenatal care prevents and identifies maternal and fetal problems that adversely affect the pregnancy outcome. Prenatal visits involve scheduled screening tests such as prenatal ultrasounds or blood glucose tests and measurements of fetal/maternal health metrics. These visits are also opportunities to educate pregnant women about pregnancy, labor, delivery, and parenting while providing psychological support to patients and their families.

DiGeorge Syndrome

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.

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 concept page
Trisomy 21: Prenatal Screening 03:21 min

Trisomy 21: Prenatal Screening 3 quiz questions

Trisomy 21: Prenatal Screening 2 Concept Pages
Trisomy 18 and Trisomy 13 05:54 min

Trisomy 18 and Trisomy 13 5 quiz questions

Trisomy 18 and Trisomy 13 2 Concept Pages
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) 2 Concept Pages
DiGeorge Syndrome 05:00 min

DiGeorge Syndrome 3 quiz questions

DiGeorge Syndrome 1 concept page
Williams Syndrome 04:25 min

Williams Syndrome 3 quiz questions

Williams Syndrome 1 concept page
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 concept page
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 concept page
Marfan Syndrome (MFS) 04:44 min

Marfan Syndrome (MFS) 2 quiz questions

Marfan Syndrome (MFS) 1 concept page
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 concept page
CHARGE and VACTERL 07:42 min

CHARGE and VACTERL 5 quiz questions

CHARGE and VACTERL 3 Concept Pages
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 2 Concept Pages
Fetal Alcohol Syndrome (FAS) 05:47 min

Fetal Alcohol Syndrome (FAS) 5 quiz questions

Fetal Alcohol Syndrome (FAS) 1 concept page

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Pediatric Genetics

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Your Educators of course Pediatric Genetics

Brian Alverson, MD

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