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ABGC 100 disorders Exam Questions and Answers
100% Pass
A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and
complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing.
Genetic testing shows mutation in the FGF3 gene. What disease? - ANSWER ✔✔-Achondroplasia
A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show
butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. What
condition to suspect and inheritance? - ANSWER ✔✔-Alagille syndrome, AD
A 30 year old male comes to see you complaining of lung issues: SOB, fatiugure and recurrent infections.
He was tested negative for all Cystic fibrosis mutations. He mentions having a few episodes of jaundice
in his 20s. WHen you go to shake hands, you notice patches on his skin. Condition and inheritance? -
ANSWER ✔✔-Alpha 1 antitrypsin, autosomal codominant and AR
A newborn is born with ambitious genitalia. You suspect AIS but notice other features like
craniosynostosis and bowed legs. Additionally, the baby has Choanal atresia. What disorder can you
suspect? - ANSWER ✔✔-Severe antler-bixley syndrome
You see a 2 year old female baby with partial vision loss and episodes ofhematouria. She gets genetic
testing and is found to have a mutation in the COL1A5 gene for Alport syndrome. What symptom tends
to develop in these kids during late childhood? - ANSWER ✔✔-Sensorineural hearing loss due to inner
ear anomalies
Your child is diagbnosed with ataxia at 4 years old and has difficulty learning how to walk. She is in
speech therapy for problems with slurring her words. She gets referred to an optometrist who notices
Created by Grace Amelia © 2025, All Rights Reserved.
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strange blood vessel formation in her eyes. Doctors are worried about her increased risk for leukemia and
lymphoma. What condition? - ANSWER ✔✔-Ataxia telengectasia
You have noticed your child has been gaining weight rapidly and is not eating anymore than normal. He
is on an IEP in school for a moderate learning disability. You go to doctor because he is complaining
about not being able to see to the side. He was also born with short fingers and toes that looked fused
together. Doctors confirm retinal degeneration and explains he will likely be legally blind within a few
years. What condition? - ANSWER ✔✔-Bardet-biedl syndrome
A mother comes in with her child. She tells you the baby was born with an unusually large tongue and an
enlarged kidney. The mother had to undergo a Csection because the baby was too big and had an
omphalocele. What type of tumor is this baby at risk for developing and what condition do you suspect
based on that? - ANSWER ✔✔-Beckwith-Wiedemann syndrome; Wilms tumor 10% chance usually in
childhood
You notice your 3 month old baby is floppy and has a large head. She is having trouble swallowing milk
and you notice some seizures. She is unable to grab on to anything with her fingers. Doctors notice a large
amount of NAA (N-acetylaspartic acid) in her urine. What is the Dx? - ANSWER ✔✔-Canavan Disease -
leukodystrophy
Your toddler keeps struggling to walk and maintain a balance. She is unable to walk and doctors are
worried because you remember a cousin with similar symptoms who was wheelchair bound in her 20s. A
gene mutation in PMP22 is found. what's is dx? - ANSWER ✔✔-Charcot Marie tooth disease type 2
Your son has a friend who can fold his shoulders forward completely, he says he was born without
clavicle bones. He is also unusually short even though everyone in his family could be basket back
players. When he laughs, you notice how small his teeth are and look like little pegs. What is the
diagnosis and what other bone symptoms can you expect? - ANSWER ✔✔-Cleidocranial dysplasia -
delayed Fontanelle closing, tapered fingers, short forearms, knock knees, scoliosis, small upper jaw
Created by Grace Amelia © 2025, All Rights Reserved.
ABGC 100 disorders Exam Questions and Answers
100% Pass
A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and
complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing.
Genetic testing shows mutation in the FGF3 gene. What disease? - ANSWER ✔✔-Achondroplasia
A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show
butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. What
condition to suspect and inheritance? - ANSWER ✔✔-Alagille syndrome, AD
A 30 year old male comes to see you complaining of lung issues: SOB, fatiugure and recurrent infections.
He was tested negative for all Cystic fibrosis mutations. He mentions having a few episodes of jaundice
in his 20s. WHen you go to shake hands, you notice patches on his skin. Condition and inheritance? -
ANSWER ✔✔-Alpha 1 antitrypsin, autosomal codominant and AR
A newborn is born with ambitious genitalia. You suspect AIS but notice other features like
craniosynostosis and bowed legs. Additionally, the baby has Choanal atresia. What disorder can you
suspect? - ANSWER ✔✔-Severe antler-bixley syndrome
You see a 2 year old female baby with partial vision loss and episodes ofhematouria. She gets genetic
testing and is found to have a mutation in the COL1A5 gene for Alport syndrome. What symptom tends
to develop in these kids during late childhood? - ANSWER ✔✔-Sensorineural hearing loss due to inner
ear anomalies
Your child is diagbnosed with ataxia at 4 years old and has difficulty learning how to walk. She is in
speech therapy for problems with slurring her words. She gets referred to an optometrist who notices
Created by Grace Amelia © 2025, All Rights Reserved.
, 2|Page
strange blood vessel formation in her eyes. Doctors are worried about her increased risk for leukemia and
lymphoma. What condition? - ANSWER ✔✔-Ataxia telengectasia
You have noticed your child has been gaining weight rapidly and is not eating anymore than normal. He
is on an IEP in school for a moderate learning disability. You go to doctor because he is complaining
about not being able to see to the side. He was also born with short fingers and toes that looked fused
together. Doctors confirm retinal degeneration and explains he will likely be legally blind within a few
years. What condition? - ANSWER ✔✔-Bardet-biedl syndrome
A mother comes in with her child. She tells you the baby was born with an unusually large tongue and an
enlarged kidney. The mother had to undergo a Csection because the baby was too big and had an
omphalocele. What type of tumor is this baby at risk for developing and what condition do you suspect
based on that? - ANSWER ✔✔-Beckwith-Wiedemann syndrome; Wilms tumor 10% chance usually in
childhood
You notice your 3 month old baby is floppy and has a large head. She is having trouble swallowing milk
and you notice some seizures. She is unable to grab on to anything with her fingers. Doctors notice a large
amount of NAA (N-acetylaspartic acid) in her urine. What is the Dx? - ANSWER ✔✔-Canavan Disease -
leukodystrophy
Your toddler keeps struggling to walk and maintain a balance. She is unable to walk and doctors are
worried because you remember a cousin with similar symptoms who was wheelchair bound in her 20s. A
gene mutation in PMP22 is found. what's is dx? - ANSWER ✔✔-Charcot Marie tooth disease type 2
Your son has a friend who can fold his shoulders forward completely, he says he was born without
clavicle bones. He is also unusually short even though everyone in his family could be basket back
players. When he laughs, you notice how small his teeth are and look like little pegs. What is the
diagnosis and what other bone symptoms can you expect? - ANSWER ✔✔-Cleidocranial dysplasia -
delayed Fontanelle closing, tapered fingers, short forearms, knock knees, scoliosis, small upper jaw
Created by Grace Amelia © 2025, All Rights Reserved.
