Genetic/Congenital Flashcards
What defects are seen in trisomy 13 (Patau syndrome)?
Failure to thrive, seizures, cleft lip and palate,
microphthalmia, cutis aplasia of the scalp (congenital absence of skin), congenital heart disease, and severe mental retardation
What is cri du chat syndrome?
The distinctive, catlike cry associated with cri du chat syndrome is likely caused by abnormal laryngeal development; it tends to resolve with time. Profound mental retardation, self-injury behavior, hypersensitivity to sound, and repetitive behaviors are commonly seen. Deletion of the short arm of chromosome 5 is the etiology. About 85% of cases are paternal in origin.
What is VATER (or VACTERL)?
Commonly seen findings of unknown etiology. The patents affected have vertebral defect, anal atresia, cardiac defects, tracheoesophageal fistula, renal/radial defect (or both), and limb abnormalities. Intelligence is normal.
What are features of Cornelia de Lange?
Bushy eyebrows, hirsutism, limb defects, VSD, and mental retardation.
What is Wiskott-Aldrich syndrome?
Rare X-linked recessive disease that causes eczema, thrombocytopenia, and immunodeficiency. Can have eosinophilia.
Mnemonic:
Mr Wiskott-Aldrich wears a TIE but [no M]atching shirt.
TIE: Thrombocytopenia, Infections, Eczema.
[no M]: low IgM. (high IgA and IgE)
What is choanal atresia?
A congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed recanalization of the nasal fossae during fetal development. Most neonates are obligate nose breathers and cannot breathe adequately through their mouths. Infants with choanal atresia have increased breathing difficulty during feeding and sleeping and improved respirations when crying.
What is the CHARGE association?
Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear abnormalities
What are potential complications of cleft lip and palate?
Complications include recurrent otitis media and hearing loss as well as speech defects, which may be present despite good anatomic closure.
When are cleft lip and palate generally repaired?
Repair of a cleft lip usually is performed within the first 2 to 3 months of life; the palate is repaired later, usually between the ages of 6 months and 5 years.
What is the Potter sequence?
Dysmorphic child (widely spaced eyes, low set ears, broad nose, receding chin, limb abnormalities) and bilateral renal agenesis. These infants have immediate respiratory distress due to primary pulmonary hypoplasia
What is Waardenburg syndrome?
It is inherited as an autosomal dominant trait with variable penetrance. It includes, in decreasing order of frequency, the following anomalies: lateral displacement of the medial canthi, broad nasal bridge, medial hyperplasia of the eyebrows, partial albinism commonly expressed by a white forelock or heterochromia (or both), and deafness in 20% of cases.
What is Sturge-Weber syndrome?
STURGE: seizures, trigeminal port-wine stain/tram track calcifications on gyri, unilateral weakness (hemiparesis), retardation in some, glaucoma, eye problems (e.g. buphthalmos = eye enlargement)
Neurologic symptoms occur on the side OPPOSITE the port wine stain. These could be seizures or hemiparesis.
What mnemonic is helpful for remembering tuberous sclerosis?
HAMARTOMA: Hamartoma Adenoma sebaceum Mitral regurgitation Ash-leaf spots Rhabdomyoma (Tuberous sclerosis) dOminant inheritance Mental retardation (65%) Angiomyolipoma (of kidney)
What is Noonan syndrome?
Noonan syndrome, the “male Turner syndrome,” occurs in both sexes. The most common features include short stature, downslanting palpebral fissures, ptosis, low set and malformed ears, webbed neck, shieldlike chest, pulmonic stenosis, and cryptorchidism. Mental retardation is seen in one-fourth of affected individuals. It is associated with advanced paternal age.
What is thrombocytopenia-absent radius (TAR) syndrome
Diagnosed in the newborn who demonstrates profound thrombocytopenia, bilateral absence of radius, and abnormally shaped thumbs. Cardiac lesions include TOF
and ASD. About 40% of patients die in the newborn period as a result of low-platelet-induced bleeding.
What syndrome is associated with prolonged QT and deafness?
Jervell-Lange-Nielsen syndrome (autosomal recessive)
What is prune belly syndrome?
It is a malformation that occurs mostly in males and is characterized by a lax, wrinkled abdominal wall (lack of abdominal muscle tone), a dilated urinary tract, intra-abdominal testicular, and significant renal dysfunction or dysplasia leading to oligohydramnios and commonly associated pulmonary complications, such as pulmonary hypoplasia and pneumothorax. Congenital hip dislocation, clubfeet, and intestinal malrotation with possible secondary volvulus can occur. There does not appear to be a genetic predisposition to prune belly syndrome.
What are the manifestations of Alport syndrome?
X-linked dominant (males more heavily affected). Hearing loss and deafness, hematuria especially after URIs, ESRD by second or third decade of life is common, ocular abnormalities in 30-40%, and rarely leiomyomas of the esophagus and respiratory tree
What is homocystinuria?
AR, deficiency of cystathionine β-synthase. Manifestations include poor growth, arachnodactyly, osteoporosis, dislocated lenses, and mental retardation. In addition, thromboembolic phenomena may be seen in the pulmonary and systemic arteries and particularly in the cerebral vasculature (e.g. infantile stroke).
What muscle groups are primarily affected in myotonic dystrophy?
Distal muscle weakness is a key feature (as opposed to other muscular dystrophies which usually cause proximal muscle weakness)
What is diagnostic criteria for NF1 (mutation of chr 17)?
The presence of any two of the following findings confirms the diagnosis of NF1: (1) Five or more café au lait spots over 5 mm in diameter in prepubertal patients; six or more over 15 mm in diameter in postpubertal patients; (2) axillary freckling; (3) two or more Lisch nodules (hamartomas of the iris); (4) two or more neurofibromas, typically involving the skin and appearing during adolescence or pregnancy, or one plexiform neuroma involving a nerve track present at birth; (5) bony lesions leading to pathologic fracture and kyphoscoliosis; (6) optic glioma; (7) NF1 in a first-degree relative.
What is usually the cause of death in Reye syndrome?
Death is usually from cerebral edema and subsequent herniation.
What is PHACES syndrome?
Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome. Hemangiomas linked with PHACE Syndrome tend to cover a large area of the face, head or neck, either as one lesion or as many single lesions.
What is Beckwith-Wiedemann syndrome?
At birth infants have macrosomia with macroglossia, abdominal wall defects, linear ear creases, and organomegaly; they often have hypoglycemia in the newborn period. They have an increased incidence of developing malignancy, especially Wilms tumor,
hepatoblastoma, and gonadoblastoma. Intellect is usually normal.