[Trichorhinophalangeal syndrome]

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder characterized by specific facial and skeletal abnormalities.
• TRPS is classified into different types based on the severity and combination of clinical features.
• Ectopic thyroid glands, while uncommon, can lead to various thyroid dysfunctions.

Observation:

• The described patient presents with a combination of clinical and radiological symptoms consistent with both TRPS Type I and Type II.
• Specific features include short stature, distinctive facial morphology (pear-shaped nose, prominent philtrum, broad nasal bridge), dental anomalies, sparse hair, ear abnormalities, and skeletal malformations.
• The patient also exhibits neurological symptoms like epilepsy and mild deafness, alongside primary hypothyroidism originating from an ectopic thyroid gland.

Findings:

• This case highlights the phenotypic overlap between TRPS Type I and Type II in a single patient.
• The co-occurrence of TRPS with primary hypothyroidism due to an ectopic thyroid gland is unprecedented, suggesting a potential, albeit likely coincidental, association.
• The ectopic thyroid gland is a significant finding, representing the first documented instance in a patient with TRPS.

Implications:

• This case expands the understanding of the phenotypic variability within Tricho-rhino-phalangeal syndrome.
• It underscores the importance of comprehensive evaluation in patients with rare genetic disorders to identify co-occurring conditions.
• The identification of an ectopic thyroid gland in this context may prompt further research into potential genetic or developmental links, though coincidence is considered probable.