CLINICAL EXAM SCENARIOS RELIABLE EXAM QUESTIONS
WITH SOLUTIONS A+ 2025/2026
✔✔Fragile X Syndrome - ✔✔X-linked dominant disease, FMR1 gene, caused by a
trinucleotide repeat expansion in FMR1 gene (CGG trinucleotide repeat in 5'
untranslated region, WT=6-50 CGG, fragile X=200-1000 repeats), head: macrocephaly,
face: long face, prominent jaw, large ears, heart: mitral valve prolapse, skeletal:
scoliosis, neurologic: autism like presentation. VERY PLEIOTROPIC. causes a range of
developmental problems including learning disabilities and cognitive impairment.
Usually, males are more severely affected by this disorder than females. Affected
individuals usually have delayed development of speech and language by age 2.
✔✔Rett Syndrome - ✔✔X-linked dominant disease, MECP2 gene, Infants seem healthy
during their first six months, but over time, rapidly lose coordination, speech, and use of
the hands. Symptoms may then stabilize for years.
✔✔Alport syndrome - ✔✔X-linked dominant disease, 80% COL4A5 gene, characterized
by kidney disease , hearing loss , and eye abnormalities. Most affected individuals
experience progressive loss of kidney function, usually resulting in end-stage kidney
disease.
✔✔Hypophosphatemic Rickets - ✔✔X-linked dominant disease, PHEX gene, defective
intestinal absorption of calcium, and rickets or osteomalacia unresponsive to vitamin D.
It is usually hereditary. Symptoms are bone pain, fractures, and growth abnormalities.
✔✔Incontinentia pigmenti - ✔✔X-linked dominant disease, IKBKG gene, characterized
by skin abnormalities that evolve throughout childhood and young adulthood.
✔✔X-linked protoporphyria - ✔✔X-linked dominant disease, ALAS2 gene, disruptions in
heme metabolism
✔✔MERRF (myoclonic epilepsy with ragged red fibers) - ✔✔mitochondrial disease,
most cases caused by mutation in tRNA(lys) gene (85% due to A-->G transition
mutation, rest G-->C transversion). characterized by myoclonus (quick, involuntary mm
jerk) , which is often the first symptom, followed by generalized epilepsy, ataxia ,
weakness, and dementia . Symptoms usually first appear in childhood or adolescence
after normal early development.
✔✔MELAS (Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes) -
✔✔mitochondrial disease, 80% of cases result from mutation in MT-TL1 gene, dementia
like symptoms
✔✔KSS (Kearns-Sayre syndrome) - ✔✔mitochondrial disease, caused by a large
mitochondrial deletion, often begins with drooping of eyelids
, ✔✔Pterion fracture - ✔✔This clinical condition can occur in combat sports such as
mixed martial arts or boxing. A branch of the middle meningeal artery can be ruptured,
causing bleeding into the space between the cranial bones and connective tissues
surrounding the brain (epidural bleed)
✔✔Positional plagiocephaly - ✔✔posterior flattening of the skull due to supine sleep
positioning, causing an oblique slant of the posterior skull. Ears are not level in frontal
plane
✔✔Scaphocephaly - ✔✔Type of craniosynostosis where there is premature closing of
the sagittal suture, causing a hull shaped skull (40-60% cases)
✔✔Brachycephaly - ✔✔Type of craniosynostosis where there is premature closing of
the coronal suture, causing a tower like skull (20-30% cases)
✔✔Trigonocephaly - ✔✔Type of craniosynostosis where there is premature closing of
the metopic suture, causing a narrow, triangle-shaped forehead, <10% of cases
✔✔Plagiocephaly - ✔✔Type of craniosynostosis where there is premature closure of
one side of the coronal or lambdoid suture or both, causing a twisted skull, <4% cases,
ears level in frontal plane
✔✔Kleeblattschadel - ✔✔"clover leaf skull" type of craniosynostosis caused by
premature closing of multiple sutures, most often coronal and lambdoid, causing a tri-
lobed skull, extremely rare
✔✔Microcephaly - ✔✔smaller than average calvaria, sometimes associated with
premature closure of all sutures
✔✔Hydrocephaly - ✔✔When there is abnormal drainage and/or reabsorption of
cerebrospinal fluid in the subarachnoid spaces of the head causing an expansion of the
neurocranium. Ex. blockage of flow of CSF or problem reabsorbing CSF
✔✔Otitis externa - ✔✔also known as swimmer's ear and is an infection of the outer ear
✔✔Hematoma auris - ✔✔also known as cauliflower ear, an outer ear condition when
trauma ruptures blood vessels in the ear, frequently occurs in wrestlers or boxers
✔✔Cerumen impaction - ✔✔outer ear condition when there is an accumulation of ear
wax which causes a blockage of the tympanum
✔✔Hypoacusis - ✔✔a middle ear condition in which one is not getting enough signal
amplification caused either by sensorineural (inner ear) or conductive (middle ear)
WITH SOLUTIONS A+ 2025/2026
✔✔Fragile X Syndrome - ✔✔X-linked dominant disease, FMR1 gene, caused by a
trinucleotide repeat expansion in FMR1 gene (CGG trinucleotide repeat in 5'
untranslated region, WT=6-50 CGG, fragile X=200-1000 repeats), head: macrocephaly,
face: long face, prominent jaw, large ears, heart: mitral valve prolapse, skeletal:
scoliosis, neurologic: autism like presentation. VERY PLEIOTROPIC. causes a range of
developmental problems including learning disabilities and cognitive impairment.
Usually, males are more severely affected by this disorder than females. Affected
individuals usually have delayed development of speech and language by age 2.
✔✔Rett Syndrome - ✔✔X-linked dominant disease, MECP2 gene, Infants seem healthy
during their first six months, but over time, rapidly lose coordination, speech, and use of
the hands. Symptoms may then stabilize for years.
✔✔Alport syndrome - ✔✔X-linked dominant disease, 80% COL4A5 gene, characterized
by kidney disease , hearing loss , and eye abnormalities. Most affected individuals
experience progressive loss of kidney function, usually resulting in end-stage kidney
disease.
✔✔Hypophosphatemic Rickets - ✔✔X-linked dominant disease, PHEX gene, defective
intestinal absorption of calcium, and rickets or osteomalacia unresponsive to vitamin D.
It is usually hereditary. Symptoms are bone pain, fractures, and growth abnormalities.
✔✔Incontinentia pigmenti - ✔✔X-linked dominant disease, IKBKG gene, characterized
by skin abnormalities that evolve throughout childhood and young adulthood.
✔✔X-linked protoporphyria - ✔✔X-linked dominant disease, ALAS2 gene, disruptions in
heme metabolism
✔✔MERRF (myoclonic epilepsy with ragged red fibers) - ✔✔mitochondrial disease,
most cases caused by mutation in tRNA(lys) gene (85% due to A-->G transition
mutation, rest G-->C transversion). characterized by myoclonus (quick, involuntary mm
jerk) , which is often the first symptom, followed by generalized epilepsy, ataxia ,
weakness, and dementia . Symptoms usually first appear in childhood or adolescence
after normal early development.
✔✔MELAS (Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes) -
✔✔mitochondrial disease, 80% of cases result from mutation in MT-TL1 gene, dementia
like symptoms
✔✔KSS (Kearns-Sayre syndrome) - ✔✔mitochondrial disease, caused by a large
mitochondrial deletion, often begins with drooping of eyelids
, ✔✔Pterion fracture - ✔✔This clinical condition can occur in combat sports such as
mixed martial arts or boxing. A branch of the middle meningeal artery can be ruptured,
causing bleeding into the space between the cranial bones and connective tissues
surrounding the brain (epidural bleed)
✔✔Positional plagiocephaly - ✔✔posterior flattening of the skull due to supine sleep
positioning, causing an oblique slant of the posterior skull. Ears are not level in frontal
plane
✔✔Scaphocephaly - ✔✔Type of craniosynostosis where there is premature closing of
the sagittal suture, causing a hull shaped skull (40-60% cases)
✔✔Brachycephaly - ✔✔Type of craniosynostosis where there is premature closing of
the coronal suture, causing a tower like skull (20-30% cases)
✔✔Trigonocephaly - ✔✔Type of craniosynostosis where there is premature closing of
the metopic suture, causing a narrow, triangle-shaped forehead, <10% of cases
✔✔Plagiocephaly - ✔✔Type of craniosynostosis where there is premature closure of
one side of the coronal or lambdoid suture or both, causing a twisted skull, <4% cases,
ears level in frontal plane
✔✔Kleeblattschadel - ✔✔"clover leaf skull" type of craniosynostosis caused by
premature closing of multiple sutures, most often coronal and lambdoid, causing a tri-
lobed skull, extremely rare
✔✔Microcephaly - ✔✔smaller than average calvaria, sometimes associated with
premature closure of all sutures
✔✔Hydrocephaly - ✔✔When there is abnormal drainage and/or reabsorption of
cerebrospinal fluid in the subarachnoid spaces of the head causing an expansion of the
neurocranium. Ex. blockage of flow of CSF or problem reabsorbing CSF
✔✔Otitis externa - ✔✔also known as swimmer's ear and is an infection of the outer ear
✔✔Hematoma auris - ✔✔also known as cauliflower ear, an outer ear condition when
trauma ruptures blood vessels in the ear, frequently occurs in wrestlers or boxers
✔✔Cerumen impaction - ✔✔outer ear condition when there is an accumulation of ear
wax which causes a blockage of the tympanum
✔✔Hypoacusis - ✔✔a middle ear condition in which one is not getting enough signal
amplification caused either by sensorineural (inner ear) or conductive (middle ear)
