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Cafe au lait spots, macrocephaly, feeding problems, short stature, learning disabilities, and later fibromas/neurofibromas:

a) Marfan syndrome
b) Von Hippel-Lindau syndrome
c) Neurofibromatosis type 1 (NF1)
d) Neurofibromatosis type 2 (NF2)

User Jim Wrubel
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1 Answer

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Final answer:

Café au lait spots, macrocephaly, feeding problems, short stature, learning disabilities, and fibromas/neurofibromas are symptoms of Neurofibromatosis type 1 (NF1), which is a genetic disorder inherited in an autosomal dominant pattern.

Step-by-step explanation:

The clinical features described in the question, including café au lait spots, macrocephaly, feeding problems, short stature, learning disabilities, and later fibromas/neurofibromas, are characteristic of Neurofibromatosis type 1 (NF1). Neurofibromatosis type 1 is a genetic disorder caused by mutations in the NF1 gene which leads to the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin coloration (café au lait spots). It is inherited in an autosomal dominant pattern, meaning that a copy of the mutated gene from just one parent is enough to cause the disease. This disease has different manifestations and can be associated with other health issues such as learning disabilities and orthopedic problems. Additionally, the inheritance pattern for Neurofibromatosis can be seen in a Punnett square, where there is a 50% chance for the dominant allele (Nn) to pass on the condition and a 50% chance for the recessive allele (nn) to not show the disease.

User LynchburgExplorer
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