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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.

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.

Marfan Syndrome (MFS) — Signs and Symptoms

Marfan syndrome is caused by a disturbed production of microfibrils and leads to problems in connective tissue. It involves primarily the cardiovascular system, causing aortic dilatation and dissection. In the following sections, this article will be presenting you a well-structured and concise information on the Marfan syndrome.

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.

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.

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.

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.

Fragile X Syndrome (FXS, Martin-Bell Syndrome) — Symptoms and Treatment

Fragile X Syndrome results from a mutation in the promoter region of FMR1 gene. A characteristic physical phenotype of FXR includes a long face, prominent forehead, high arched palate, large ears and flat feet. Learning disability, social anxiety, hypersensitivity to different stimuli, attention deficit hyperactivity disorder and lack of clarity in speech are some of the clinical features of FXR. Molecular genetic testing is used for diagnosis. Treatment is aimed at improving psychiatric issues and associated physical conditions.

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.

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.

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.

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.

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.

Trisomy 21 07:51 min

Trisomy 21 6 questions

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

Trisomy 21: Prenatal Screening 4 questions

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

Trisomy 18 and Trisomy 13 5 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 questions

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

DiGeorge Syndrome 4 questions

DiGeorge Syndrome 2 articles
Williams Syndrome 04:04 min

Williams Syndrome 3 questions

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

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

Prader–Willi (PWS) and Angelman Syndrome (AS, Happy Puppet Syndrome) in Children 2 articles
Marfan Syndrome (MFS) 04:44 min

Marfan Syndrome (MFS) 3 questions

Marfan Syndrome (MFS) 1 article
Ehlers-Danlos Syndrome (EDS, Elastic Skin) 05:16 min

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

Ehlers-Danlos Syndrome (EDS, Elastic Skin) 1 article
CHARGE and VACTERL 07:08 min

CHARGE and VACTERL 6 questions

CHARGE and VACTERL 1 article
Treacher-Collins Syndrome (TCS) and Pierre Robin Sequence 06:07 min

Treacher-Collins Syndrome (TCS) and Pierre Robin Sequence 6 questions

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

Fetal Alcohol Syndrome (FAS) 6 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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