Final answer:
The symptoms and associated advanced paternal age suggest an autosomal dominant disorder, but a precise diagnosis requires a detailed pedigree analysis and geneticist consultation. The provided symptoms do not match the listed diseases of Achondroplasia, Antithrombin deficiency, ADPKD, or BRCA mutations.
Step-by-step explanation:
Diagnosis Based on Clinical Features and Pedigree Analysis
The clinical features described by the student such as short palpebral fissures, white forelock, and deafness, along with the fact that it is associated with advanced paternal age, point towards an autosomal dominant disorder. However, without a clear pedigree analysis showing the pattern of inheritance, one cannot determine if the condition is an autosomal dominant form of ald or the X-linked form of ald, as both can present in neonates.
A pedigree like the one described in the student's question, showing males and females with filled symbols to indicate the presence of symptoms, would be valuable in determining the mode of inheritance. For diseases such as Lowe disease and others that arise from genetic mutations, understanding the inheritance pattern is crucial for diagnosis and treatment. Autosomal dominant diseases, such as achondroplasia and Marfan syndrome, are expressed with just one copy of the faulty gene and can often be discerned in a pedigree analysis.
The genetic diseases listed, including Achondroplasia, Antithrombin deficiency, ADPKD, and BRCA mutations, are not associated with the specific symptoms of short palpebral fissures, white forelock, and deafness. Therefore, based on the symptoms provided, the query does not match any of these conditions well. A professional geneticist consultation would be recommended for an accurate diagnosis and pedigree analysis to determine the specific disease affecting the infant.