ABGC 100 disorders (Well-enlightened)

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? correct answers 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? correct answers 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? correct answers 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? correct answers 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? correct answers 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 strange blood vessel formation in her eyes. Doctors are worried about her increased risk for leukemia and lymphoma. What condition? correct answers 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? correct answers 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? correct answers 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? correct answers Canavan Disease - leukodystrophy