Chromosomal Disorders
This trisomy is associated with hypotonia, characteristic facial features, and an increased risk for congenital heart disease.
What is Trisomy 21 (Down syndrome)?
This X-linked disorder causes progressive muscle weakness and calf pseudohypertrophy in young boys.
What is Duchenne Muscular Dystrophy?
This syndrome, caused by a 22q11.2 deletion, features heart defects, immune deficiency, and hypocalcemia.
What is DiGeorge syndrome?
This neural tube defect leads to exposure of spinal cord tissue and is often associated with hydrocephalus.
What is myelomeningocele?
This heart defect, common in Down syndrome, involves a single common atrioventricular valve and septal defects.
What is atrioventricular canal defect (endocardial cushion defect)?
This trisomy is characterized by rocker-bottom feet, clenched fists, and severe congenital anomalies.
What is Trisomy 18 (Edwards syndrome)?
This autosomal recessive disorder leads to thick mucus secretions, recurrent lung infections, and failure to thrive.
What is cystic fibrosis?
This syndrome, caused by a deletion on chromosome 7, is known for “elfin” facies, supravalvular aortic stenosis, and friendly personality.
What is Williams syndrome?
Abdominal organs herniate through the diaphragm into the chest cavity in this condition, causing respiratory distress.
What is congenital diaphragmatic hernia?
This congenital heart defect leads to cyanosis and requires surgical correction, with pulmonary outflow tract obstruction, right ventricular hypertrophy, and overriding aorta.
What is Tetralogy of Fallot?
This trisomy presents with midline defects, holoprosencephaly, and polydactyly.
What is Trisomy 13 (Patau syndrome)?
This disorder is caused by a trinucleotide repeat expansion on the FMR1 gene and is the most common inherited cause of intellectual disability.
What is Fragile X syndrome?
Deletion of maternal chromosome 15q11-q13 and uniparental disomy of paternal chromosome leads to this syndrome with ataxia and happy demeanor.
What is Angelman syndrome?
Absence of ganglion cells in the colon leads to failure to pass meconium and abdominal distention in newborns.
What is Hirschsprung disease?
This GI anomaly presents with projectile, non-bilious vomiting, at around 2-6 weeks of age, and a palpable olive mass.
What is pyloric stenosis?
This syndrome can be diagnosed in females with short stature, webbed neck, and lymphedema, and is associated with a 45,X karyotype.
What is Turner syndrome?
Mutation in the SMN1 gene causes this disorder leading to severe muscle weakness and “floppy infant” presentation.
What is Spinal Muscular Atrophy (SMA)?
This syndrome presents with poor feeding in infancy, hypotonia, and later, hyperphagia and obesity, due to 15q11-q13 paternal deletion.
What is Prader-Willi syndrome?
This abdominal wall defect features intestines protruding through an opening to the right of the umbilicus, without a covering membrane.
What is gastroschisis?
This congenital GI disorder is associated with an inability to pass meconium, especially in cystic fibrosis patients.
What is meconium ileus?
This syndrome is caused by a deletion of the short arm of chromosome 5, leading to a distinctive “cat-like” cry in infants.
What is Cri-du-chat syndrome?
Deficiency of the enzyme phenylalanine hydroxylase causes this disorder, which can lead to intellectual disability if untreated.
What is phenylketonuria (PKU)?
This disorder’s features include severe intellectual disability, microcephaly, and frequent hand-wringing movements, mostly affecting girls.
What is Rett syndrome?
Airway obstruction, micrognathia, and glossopteris, sometimes with cleft palate, describe this congenital sequence.
What is Pierre Robin sequence?
This syndrome consists of omphalocele, macroglossia, and hypoglycemia, and increases risk of childhood tumors.
What is Beckwith-Wiedemann syndrome?