Findings: short arms and legs, genu varum, normal intelligence, macrocephaly, delayed motor milestones, sudden death due to compression of cervicomedullary junction
Notes: Mutation in FGFR3 gene due to sporadic mutation. Autosomal dominant if inherited.
Question: What fits these findings?
Acute Intermittent Porphyria (AIP)
Category: generalpediatrics-Genetics
Findings: abdominal pain, weakness, confusion, headaches, disorder of heme synthesis
Notes: Treat with D10 fluids and eliminate triggers such as alcohol, medications, and fasting diets.
Alcardi Syndrome
Category: generalpediatrics-Genetics
Findings: missing corpus callosum, infantile spasms
Notes: X-linked dominant
Alport Syndrome
Category: generalpediatrics-Genetics
Findings: hematuria, proteinuria, sensorineural hearing loss, swelling in extremities and eyes, eye abnormalities
Notes: X-linked dominant. May progress to kidney disease and hypertension.
Notes: Increased risk for Wilms tumor, hepatoblastoma, neuroblastoma. Needs checking of alpha-fetoprotein and beta-hCG every 3 months until 8 years old to monitor for hepatoblastoma.
Question: What fits these findings?
Chronic Granulomatous Disease
Category: generalpediatrics-Genetics
Findings: osteomyelitis, liver abscesses, lymphadenitis, skin infections, GI infections, granulomas
Notes: X-linked recessive disorder caused by inability of neutrophils to create oxidants to kill foreign organisms. Diagnose with dihydrorhodamine fluorescence test and nitroblue tetrazolium test. Treat with life-long antibiotic prophylaxis, anti-fungals, and interferon gamma.
Findings: almond shaped eyes, upslanting palpebral fissures, single palmar crease, rounded face, hypotonia, wide space between first and second toes, AV canal defect, atlantoaxial instability, clinodactyly, Brushfield spots, intellectual disability, infertile males
Notes: Nondisjunction cause of Down syndrome has low risk of recurrence but translocation cause has much higher risk of recurrence. If there is any gait problems or neurological signs, obtain a cervical xray or MRI to look for atlantoaxial instability.
Notes: Usually affects males due to being X-linked recessive, though female carrier may exhibit some symptoms
Question: What fits these findings?
Fragile X Syndrome
Category: generalpediatrics-Genetics
Findings: long face with prominent jaw, large ears, intellectual disability, enlarged testicles
Notes: Most common inherited cause of intellectual disability
Gardner Syndrome
Category: generalpediatrics-Genetics
Findings: premalignant polyps throughout intestines, supernumerary teeth, tumors in other parts of body such as bone and soft tissue (epidermoid cysts and fibromas)
Notes: A variant of familial adenomatous polyposis
Findings: jaundice, hemolysis, heinz bodies, dark urine
Notes: Consider if you seen jaundice in newborn on first day of life. Seen after ingestion of oxidative stressors such as malaria medications, bactrim, cipro, fava bean. More often seen in patients of Mediterranean or African descent.
Holt Oram Syndrome
Category: generalpediatrics-Genetics
Findings: hypoplastic radius and thumb, triple jointed thumb, ASD or VSD
Marfan syndrome
Category: generalpediatrics-Genetics
Findings: pectus deformity, joint hypermobility, mitral valve prolapse, long upper extremities, tall stature, superior subluxation of lens
Question: Which disease is associated with these findings?
Nail Patella Syndrome
Category: generalpediatrics-Genetics
Findings: pitting nails, absent nails, abnormal or absent patella
Noonan Syndrome
Category: generalpediatrics-Genetics
Findings: webbed neck, pulmonic stenosis, pectus excavatum, hypertrophic cardiomyopathy, low set ears, hypertelorism, short stature
Notes: Unlike Turner, can be male or female.
Question: What fits these findings?
Osteosarcoma
Category: generalpediatrics-Genetics
Findings: retinoblastoma
Notes: Having retinoblastoma increases the risk of developing sarcomas.
Question: What bone problem does this condition increase the risk of?
Peutz-Jeghers Syndrome
Category: generalpediatrics-Genetics
Findings: hamartomatous benign GI polyps, hyperpigmented macules on mouth or genitalia or hands, family history of hereditary intestinal polyposis, may lead to intussusception or obstruction, increased risk of GI cancer and breast cancer
Notes: Screen for other cancers including using colonoscopy, testicular exam, pap smears as the risks of other cancers are increased
Question: What fits these findings?
Sturge-Weber Syndrome
Category: generalpediatrics-Genetics
Findings: port wine stain, infantile seizures, glaucoma
Trisomy 13 (Patau)
Category: generalpediatrics-Genetics
Findings: cleft lip and or palate, microcephaly, microphthalmia, punched out scalp lesions, aplasia cutis congenita, polydactyly, low set ears, absent ribs, postaxial polydactylyl, ventral septal defect
Notes: Infants with this condition often die by half a year of age
Findings: hemangioblastomas in cerebellum or retina
Notes: Autosomal dominant cancer disorder that involves multiple systems causing benign and malignant tumors in eyes, brains, pancreas, kidneys, adrenals, and reproductive organs.
Waardenburg Syndrome
Category: generalpediatrics-Genetics
Findings: white forelock of hair, albinism, heterochromia, deafness