Coarse Facies Differential Diagnosis
The differential diagnosis for coarse facies can be organized into the following categories:
- Single Most Likely Diagnosis
- Hurler syndrome: This is a genetic disorder caused by the deficiency of alpha-L-iduronidase enzyme, leading to the accumulation of mucopolysaccharides in the body. Coarse facies, clouded corneas, and developmental delays are characteristic features.
- Other Likely Diagnoses
- Hunter syndrome: Similar to Hurler syndrome, Hunter syndrome is caused by a deficiency of iduronate-2-sulfatase enzyme, leading to mucopolysaccharide accumulation. It presents with coarse facies, macrocephaly, and developmental delays.
- Sanfilippo syndrome: A group of genetic disorders caused by the deficiency of enzymes involved in the breakdown of heparan sulfate, leading to its accumulation. Coarse facies, developmental delays, and behavioral problems are common features.
- Morquio syndrome: A genetic disorder caused by the deficiency of enzymes involved in the breakdown of keratan sulfate and chondroitin-6-sulfate, leading to their accumulation. Coarse facies, short stature, and skeletal abnormalities are characteristic features.
- Do Not Miss Diagnoses
- Mucolipidosis: A group of genetic disorders caused by the deficiency of enzymes involved in the breakdown of lipids, leading to their accumulation. Coarse facies, developmental delays, and clouded corneas are common features. Although less common, missing this diagnosis can have significant implications for patient management and prognosis.
- Sly syndrome: A rare genetic disorder caused by the deficiency of beta-glucuronidase enzyme, leading to the accumulation of glycosaminoglycans. Coarse facies, developmental delays, and hepatosplenomegaly are characteristic features. Due to its rarity and potential for severe outcomes, it is essential not to miss this diagnosis.
- Rare Diagnoses
- I-cell disease: A rare genetic disorder caused by the deficiency of enzymes involved in the breakdown of lipids, leading to their accumulation. Coarse facies, developmental delays, and clouded corneas are common features.
- Maroteaux-Lamy syndrome: A rare genetic disorder caused by the deficiency of arylsulfatase B enzyme, leading to the accumulation of dermatan sulfate. Coarse facies, short stature, and skeletal abnormalities are characteristic features.
- Scheie syndrome: A rare genetic disorder caused by the deficiency of alpha-L-iduronidase enzyme, leading to the accumulation of mucopolysaccharides. Coarse facies, clouded corneas, and developmental delays are common features.