Schmid-Fraccaro syndrome: severe neurologic features.

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Schmid-Fraccaro syndrome is a rare genetic disorder linked to chromosome 22 abnormalities, typically partial trisomy or tetrasomy.
• The syndrome is characterized by a variable combination of congenital anomalies, including ocular (coloboma) and anorectal (anal atresia) malformations.
• Neurological involvement, manifesting as developmental delays, can also be a feature.

Observation:

• This report details a 17-year-old female diagnosed with Schmid-Fraccaro syndrome.
• The patient presented with severe cognitive and motor deficits.
• Physical examination revealed bilateral iris coloboma, hypertelorism, preauricular tags, scoliosis, and a cardiac systolic murmur.

Findings:

• The definitive diagnosis of Schmid-Fraccaro syndrome was established through karyotype analysis.
• The patient's history included early evaluation for anal atresia and congenital heart disease.
• The case underscores the phenotypic variability and potential severity of neurological impact in this syndrome.

Implications:

• The prognosis for Schmid-Fraccaro syndrome is generally favorable and depends on the extent of malformations.
• Early diagnosis and genetic investigation are crucial for understanding and managing the syndrome.
• This case contributes to the understanding of the clinical spectrum and long-term outcomes of Schmid-Fraccaro syndrome.