Pediatric Genetics/disorders

They both have short stature, webbed neck, just deformity and cubitus valgus. However, Noonan = right sided heart defects and hypertelorism while Turner = left-sided heart defects like coarctation

Short stature, large head, café au lait spots

It is equal to the overall risk in the general population (1%) PLUS The mothers age related risk. 40 year old mom = 1:90 while 22 year old risk = 1:1500

Tall stature, pectus excavatum, lens dislocation and developmental delay

1. More than or equal to six café au lait macules greater than 5 mm in pre-puberty and more than 15 mm post pubertal

2. More than equal to two neurofibromas or one plexiform neurofibroma

3. Axillary or inguinal freckling

4. More than equal to 2 Lisch nodules

5. Optic glioma

6. Distinctive artist lesion such as sphenoid dysplasia or bowing of long bone cortex

7. 1st degree relative with NF1

Urine ketones would be high if glycogen storage disease and none or a few ketones if fatty acid oxidation defect

Short neck, low occipital hairline, cardiac renal and pulmonary anomalies with horseshoe kidney or double collecting system and failure of segmentation and fusion of more than two cervical vertebrae and deformity of scapula

with muscle weakness, hepatomegaly, severe cardiomegaly, and normal mental development. They have normal blood glucose, unlike patients with von Gierke disease.

deficit is of glucose-6-phosphatase, which converts glucose-6-phosphate to glucose in the liver. This patient would present at 3–4 months of age (because of the fewer feeds) with severe and rapid hypoglycemia resulting in seizures. There is also hepatomegaly and failure to thrive. It is inherited as autosomal recessive.

Triad of thrombocytopenia, eczema and recurrent infections with small platelets. X linked recessive disease and have increased risk for pyogenic & opportunistic infections and bleeding

Big = Bernard Soulier thrombocytopenia

Small = Wiskott-Aldrich syndrome

More than 50% have Hirschsprung’s disease, square face, hypertelorism, broad nasal bridge with prominent nasal tip and everted lower lip with posteriorly rotated ears

mutations in the PAX3 gene, located on chromosome band 2q35. It is characterized by congenital sensorineural hearing loss, pigment abnormalities of the iris (heterochromia), hair hypopigmentation (white forelock involving the forehead and both medial eyebrows), displacement of the medial canthi (dystopia canthorum), facial asymmetry, hypertrichosis of the medial eyebrows, prominent nasal root, and cutaneous depigmentation.

Think RAIN: Renal (polycycstic kidney, renal ageneais), abdominal wall defect, incorrect dating and neural issues (anencephaly and spina bifida

Trisomy 18 and 21

An X-linked disorder only found in males where kidney doesn’t respond to ADH resulting in dilute urine

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive

X linked recessive. Think guys sitting around drinking whiskey

50% of males affected while 25% of all children.

X-linked dominant

X-linked dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal dominant

Autosomal recessive

Autosomal recessive

Autosomal recessive

Autosomal recessive

Autosomal recessive

Autosomal recessive

Autosomal recessive

Autosomal recessive

Autosomal recessive

2/3

Autosomal recessive

Normal

Marfan = up and homocystinuria = down

100%

100%

15% . If this is from the mother, then chances are a little higher than if from father

Horseshoe kidney, clenched fist, rocker bottom feet, hypoplastic nails, prominent occiput and low set ears

15q11-13. Only mom = Prader Willi. Think that Moms are always trying to feed their kids

Methylation problem on chromosome 11p15.5

Elfin face, wide-spaced teeth, upturned nose, mild intellectual disability, cocktail party personality, hypercalcemia, supravalvular aortic stenosis

Deletion in chromosome 5

Deletion in chromosome 5

Apert and Crouzon

Deletion in chromosome 5

Apert and Crouzon on chromosome 10

22q11 deletion

Autosomal dominant

Conotruncal defect like tetralogy, abnormal face, thymic aphasia and immunodeficiency, cleft palate, hyPOparathyroidism,

Think CATCH22

X-linked dominant

Absence or mutation of JAG1 gene

NOD2 gene

PRSS1 gene

Colobolma, heart disease, atresia choanal, retarded growth/development, genital hypoplasia,ear anomaly (hearing loss)

Vertebral defect, anal atresia, cardiac defect (VSD), Tracheoesophageal fistula, renal abnormality and radial hypoplasia, limb abnormality

Normal

Below normal. Think that somebody needs to be in charge of them.

Normal

Mild intellectual disability

Broad based thumb, cryptorchidism and difficulty with anesthesia

They have short and broad thumbs and great toes like Rubinstein-Taybi, but with craniosynostosis and heads looks like that of Crouzon

Very short stature and triangular face and may have Limb or facial asymmetry

Undescended testes, oligohydramnios, pulmonary hypoplasia and bladder outlet obstruction

Think of the kid from the movie wonder. Conductive hearing loss, small jar, you are anomalies and abnormal lower lids with normal intellectual function

Cervicomedullary junction compression

Fragile X. You may have one to say down syndrome, but that is rarely inherited

Down syndrome

A girl who develops normally and then has rapid deterioration around 1 to 4 years of age with this elevation of head growth, and wringing and Loss of functional speech

Small jaw, cleft palate, normal size tong, but sticks out because of the small jar, syndactyly, language delay and seizures and may have cor pulmonale

Ophthalmologic (myopia, cataracts, vitreous anomaly, retinal detachment), auditory (sensorineural or conductive hearing loss), and articular (joint hypermobility, early onset osteoarthritis, spondyloepiphyseal dysplasia) abnormalities. May be associated with Pierre Robin sequence

B is low and T is high

Hyper IGE when patient presents with eosinophilia, eczema and elevated IGE resulting in recurrent sinopulmonary infections. Also have multiple fractures and skeletal abnormalities

White blood cells contain lysosomal granules, there is abnormal chemotaxis, easy bruising and albinism. These kids have very blonde hair, white skin and blue eyes. Frequent infections of lung and skin with staph, strep and pneumococcal

Autosomal recessive

Osteopenia, metaphyseal dysplasia, thoracic/rib dystrophies, and duplicated distal thumb associated with neutropenia, exocrine pancreatic insufficiency, and skeletal anomalies.

galactosemia, due to complete or near complete deficiency of the enzyme galactose-1-phosphate-uridyl transferase. Breast milk and many infant formulas contain high amounts of lactose, made up of equal parts of glucose and galactose. Absence of the enzyme leads to accumulation of galactose-1-phosphate leading to renal, hepatic, and central nervous system damage. Associated signs and symptoms include poor feeding associated with failure to thrive, vomiting, lethargy, irritability, jaundice, cataracts, hepatomegaly, and seizures. Newborns with galactosemia are at increased risk of neonatal sepsis due to Escherichia coli (E. coli).

demonstrating low or absent serum levels of galactose-1-phosphate-uridyl transferase.

Proprionic acidemia

Methylmalonic acidemia

Fatty acid oxidation defects

Maple syrup urine disease

Some organic acidemias

Maple syrup urine disease

Some organic acidemias

Urea cycle defect

Transient hyperammonemia

Maple syrup urine disease

Some organic acidemias

Urea cycle defect

Transient hyperammonemia

Aminoacidopathy

Galactosemia

Non-ketotic hyperglycemia

microcephaly, intellectual disability, and multiple malformations of internal organs. Infants with Smith-Lemli-Optiz have syndactyly of the 2nd and 3rd toes, ptosis, genital anomalies, hypotonia, and feeding difficulties. The syndrome is caused by a cholesterol metabolism defect.

inherited deficiency of glycoprotein 1b. Autosomal recessive

Shwachman-Diamond syndrome (SDS), an AR disorder have normal (< 40 mmol/L) sweat chloride results. Nearly all children with SDS have chronic, intermittent or cyclic neutropenia, often associated with anemia and/or thrombocytopenia. Patients are at risk of recurrent bacterial and fungal infections secondary to neutropenia and neutrophil dysfunction. Associated skeletal anomalies are common and include abnormal growth plate and metaphyseal development, leading to skeletal deformities increased risk of pathologic fractures; thoracic dystrophy and bifid thumbs are common.

Gaucher disease and hemosiderosis

sulfa-based antibiotics, phenytoin, phenobarbitol, carbamazepine, lamotrigine and penicillins

blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Eosinophilia in serum and biopsy. Associated abnormalities are very common, including delayed dentition, pegged or conical teeth, and partial anodontia. Scarring alopecia and hair anomalies are common.

also known as congenital telangiectatic erythema, is an autosomal recessive disorder characterized by telangiectasias and photosensitivity, severe cheilitis, growth deficiency associated with primary hypogonadism, and increased susceptibility to neoplasms. The face is long and narrow with small mandibles, malar hypoplasia, and large protruding ears. In addition, patients have disproportionately long limbs associated with progressive contractures of the hands and feet.

midface hypoplasia, micrognathia, cleft palate, glossoptosis, high myopia, and a risk for retinal detachment.

also called acute febrile neutrophilic dermatosis, is a rare skin condition that presents with fever and painful skin lesions that appear mainly on the arms, neck, face, and back. The exact cause remains unknown.

hydronephrosis, bladder dysfunction associated with bladder enlargement, dilation of the ureters, and various degrees of renal dysplasia. Pulmonary hypoplasia

Wilms tumor, aniridia, genitourinary anomalies, and reduced intellectual abilities) is used to describe a constitutional gene deletion syndrome associated with deletion of one copy of chromosome 11p13. Genitourinary anomalies are observed only in males and may include hypoplastic genitalia, hypospadias, cryptorchidism, fusion and ectopia of the kidney, and duplications of the collecting systems.

Patients are also at increased risk of gonadoblastoma, abnormalities in virilization, and, in some cases, obesity. Also known as nephroblastoma, Wilms tumor

Think of fatty acid oxidization disorder such as medium chain acyl Co-A dehydrogenase deficiency (MCAD) and obtain acylcarnitine profile