Lecturio: Study for Medical School, USMLE, MCAT & MBBS

Videos
Quiz
Articles

You're currently in preview mode. Create your free account to save your progress and access more questions.

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.

DiGeorge Syndrome, Severe Combined Immunodeficiency and more

The DiGeorge Syndrome results from microdeletion in a small segment of the chromosome 22. When inherited from parents, it follows autosomal dominant patterns. There are variable clinical features related to the DiGeorge Syndrome. The most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcaemia, and psychotic disorders later in adolescence.

CHARGE Syndrome and VACTERL Association — Signs and Symptoms

CHARGE Syndrome is a rare genetic disorder in children affecting almost all body systems due to an impaired gene expression as a result of inherited mutations in the specific genes. CHARGE is an abbreviation of Coloboma, Heart defects, Atresia choanae, growth retardation, genetic abnormalities and ear abnormalities. There is no curative therapy for the syndrome. VACTERL Association stands for vertebral abnormalities, anal atresia, cardiac defects, tracheoesophageal abnormalities, renal anomalies and limb abnormalities. It is a rare disorder. The exact genetic alterations are still not clear.

Treacher Collins Syndrome (TCS) and Pierre Robin Sequence — Treatment and Life Expectancy

Treacher Collins syndrome is characterized by the congenital hypoplasia of the zygomatic and mandible bones. It is a syndrome with a concise clinical presentation and mostly surgical treatment. Pierre Robin disorder, on the other hand, is a sequence and not a syndrome, i.e., in Pierre Robin sequence, micrognathia leads to glossoptosis. Glossoptosis, on the other hand, is responsible for the airway obstruction seen in infants with Pierre Robin sequence.

Turner Syndrome (Gonadal Dysgenesis) — Diagnosis and Management

The future gender of the individual coming into being is already fixed on a chromosomal level during the fertilization of the ovum. The determination and differentiation of the gender take place during the embryogenesis. Disturbances of the sexual differentiation can arise due to chromosome anomalies, gene mutations and exogenous or endogenous influences, which are remarkable at last in the puberty and cause patients to consult a doctor.

Williams Syndrome (WS) — Symptoms and Treatment

Williams Syndrome results from microdeletion in a region q11.23 of chromosome 7. It mostly results from de novo mutations and follows an autosomal dominant pattern. The affected individuals have a characteristic elfin facies. Common variable clinical abnormalities related to Williams Syndrome are cardiovascular diseases (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, and hypertension), connective tissue abnormalities, developmental delays, short stature, endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty) transient neonatal hypercalcemia, and mild to moderate intellectual disability. Fluorescent in situ hybridization (FISH) test is used to diagnose the syndrome. Treatment includes a multi-disciplinary approach.

DiGeorge Syndrome (22q11.2 Deletion Syndrome) — Symptoms and Treatment

DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adolescence. Microarray genetic testing is used to diagnose the syndrome. Early intervention and developmental evaluation is the key to treatment which includes multidisciplinary approach.

Facts about Pregnancy: Confirming and Dating Pregnancy, Establishing Gestational Age, First Trimester Bleeding and Fetal Alcohol Syndrome (FAS)

The occurrence of a pregnancy begins with fertilization of the egg and then lasts for 40 weeks. During this time, the fertilized egg passes through various stages. Pregnant women are given precautionary examinations at certain intervals to prevent serious complications and to check the vital signs of the fetus. Complications include abortion, placental insufficiency or developmental disorders. In order to prepare for the exam, you will receive all relevant information on pregnancy in the article.

Down Syndrome (Trisomy 21) — Causes, Symptoms and Diagnosis

Down Syndrome, or trisomy 21, is not only the most common chromosomal aberration, but also the most frequent genetic cause of mental retardation. Nowadays, it is possible to assess the risk of having a child with Down syndrome via cytogenetic examination and to discuss the matter in detail with the respective families. Learn more about the epidemiology, clinical picture and diagnostics of Down syndrome and discover its most important treatment options.

Prader-Willi Syndrome (PWS) — Diagnosis and Treatment

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neuro-developmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management of the same.

Angelman Syndrome (AS; Happy Puppet Syndrome) — Symptoms and Genetics

Angelman syndrome (AS) is an infrequent, unusual autosomal neuro-developmental disease resulting from epigenetic sex-specific genomic imprinting and uniparental disomy of paternal chromosome 15 with a simultaneous functional loss of the maternal part 15q11-q13. With a focus on clinical, diagnostic and management aspects, this article encompasses a detailed discussion on the genetic mechanisms involved in AS.

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 2 articles
Williams Syndrome 04:04 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 2 articles
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 07:08 min

CHARGE and VACTERL 5 quiz questions

CHARGE and VACTERL 2 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

5 Stars		7
4 Stars		0
3 Stars		0
2 Stars		0
1 Star		0

5 Stars		7
4 Stars		0
3 Stars		0
2 Stars		0
1 Star		0

Pediatric Genetics

Get to know the most common genetic disorders in children!

Course Details

Content

Your Educators of course Pediatric Genetics

Brian Alverson, MD

User reviews