Diagnosis can be made at birth by identifying the symptoms of the child. Ultrastructural diagnosis where tissues are analyzed is using electron microscopy is also conducted. A specimen of skin is obtained via a skin biopsy and analyzed to see any tell tale characteristics. Genetic testing can also be done to identify the mutation on the FATP4 gene associated with fatty acid synthesis. Genetic consultation through a genetic counsellor is done to determine whether the individual has this syndrome and reduces the chances of misdiagnoses with other cutaneous diseases.
Ichthyosis prematurity syndrome
Infant respiratory distress syndrome
Blue baby syndrome
Neonatal conjunctivitis
Shaken baby syndrome
Michelin tire baby syndrome
Neonatal meningitis
Tracheomalacia