Williams Syndrome
Epidemiology and Genetics Epidemiology The incidence of Williams syndrome (WS) is 1 in 7,500–20,000 live births. Genetics Clinical Presentation Outer appearance Cognitive features Behavioral features Cardiovascular features Congenital heart disease is present in 80%–90% of WS cases and is a major cause of morbidity and mortality in patients with WS. The risk of sudden cardiac […]
Fragile X Syndrome
Epidemiology and Genetics Epidemiology Genetics Fragile X syndrome (FXS) occurs due to a loss of function mutation in the fragile X mental retardation 1 (FMR1) gene on the X chromosome. FMR1 codes for fragile X mental retardation protein (FMRP), which is important in brain and gonadal (testes and ovaries) development. More than 99% of cases […]
VACTERL Association
Epidemiology and Etiology Epidemiology Etiology Clinical Presentation Characteristic features The acronym VACTERL describes the clinical manifestations of the condition. Associated conditions Diagnosis and Management Diagnosis VACTERL is a diagnosis of exclusion. All other possible conditions should be evaluated and ruled out. Management Differential Diagnosis Multiple syndromes have clinical features overlapping with VACTERL association. The presence […]
CHARGE Syndrome
Epidemiology and Genetics Epidemiology Genetics Clinical Presentation Characteristic symptoms CHARGE is an acronym to describe the clinical presentation of this syndrome: Associated conditions Diagnosis Diagnostic criteria The diagnosis of CHARGE syndrome can be established if 2 major criteria plus any number of minor criteria are present. Laboratory tests Imaging studies Other tests Management and Prognosis […]
Klinefelter Syndrome
Epidemiology and Genetics Epidemiology Genetics Clinical Presentation Clinical phenotype Associated conditions Diagnosis and Management Diagnosis Management Clinical Relevance Differential diagnoses The following conditions are differential diagnoses of Klinefelter syndrome: Related condition The following condition is related to Klinefelter syndrome as it also causes gonadal insufficiency due to a chromosomal abnormality: Turner syndrome: a chromosomal abnormality […]
Treacher Collins Syndrome
Epidemiology and Genetics Epidemiology Genetics Clinical Presentation This syndrome is characterized by a multitude of bilateral and often asymmetric craniofacial structural defects and abnormalities. Ocular symptoms Nasal symptoms Otologic symptoms Oropharyngeal symptoms Cognitive/behavioral symptoms Diagnosis Management Craniofacial malformations can result in airway compromise and feeding difficulties, making management of these problems the priority in early […]
Turner Syndrome
Epidemiology and Genetics Epidemiology Genetics Clinical Presentation Clinical phenotype Associated conditions Diagnosis and Management Diagnosis Management Clinical Relevance Differential diagnosis The following conditions are differential diagnoses of Turner syndrome: Related condition The following condition is related to Turner syndrome as it also causes gonadal insufficiency due to a chromosomal abnormality: References
Pierre Robin Sequence
Definitions The Pierre Robin sequence (PRS) is a triad of congenital micrognathia (small lower jaw), glossoptosis (retraction of the tongue into the pharynx), and airway obstruction. Epidemiology and Etiology Epidemiology: 5.15 per 10,000 live births in the United States Etiology: Clinical Presentation Diagnosis and Management Diagnosis Management Differential Diagnosis The following conditions are differential diagnoses […]
5-alpha-reductase Deficiency
Epidemiology and Etiology Synonyms Epidemiology Etiology Pathophysiology Clinical Presentation Table: Clinical presentation of 5-alpha-reductase deficiency Clinical phenotype Feminized external genitalia at birth Micropenis that resembles a clitoris Blind perineal pouch that resembles a vagina Hypospadia (congenital malformation in which the opening of the penile urethra is abnormally located on the ventral side of the penis, […]
Rett Syndrome
Genetics Clinical Presentation and Diagnosis Clinical presentation Signs and symptoms Description Delayed growth Brain growth slows after birth. Microcephaly Growth failure due to difficulties chewing and swallowing Abnormal movements Reduced hand control Decreasing ability to crawl or walk Muscles may become weak (hypotonia, rigid, or spastic). Repetitive, purposeless hand movements (hand-wringing, squeezing, clapping, tapping, rubbing) […]