Nablus Mask-Like Facial Syndrome with Moderate Developmental Delay

Area of Science:

• Genetics and rare diseases
• Pediatric dysmorphology
• Craniofacial abnormalities

Background:

• Nablus mask-like facial syndrome (NMLFS) is a rare genetic disorder characterized by distinctive craniofacial features.
• Key features include glistening facial skin, blepharophimosis, telecanthus, arched eyebrows, a flat nose, long philtrum, and unusual hair patterns.
• Associated findings often include developmental delay and a characteristic "happy" disposition.

Purpose of the Study:

• To report a clinical case of Nablus mask-like facial syndrome (NMLFS) in a 7-year-old boy.
• To describe the presentation of moderate developmental delay in this patient.
• To contribute to the limited global understanding of NMLFS diagnosis and characteristics.

Main Methods:

• Clinical case reporting of a pediatric patient.
• Detailed description of craniofacial morphology and developmental assessment.
• Review of existing literature on Nablus mask-like facial syndrome.

Main Results:

• A 7-year-old male diagnosed with Nablus mask-like facial syndrome (NMLFS) was identified.
• The patient exhibited moderate developmental delay, consistent with but distinct from the typically mild delay reported.
• The case presentation aligns with the known distinctive facial phenotype of NMLFS.

Conclusions:

• Nablus mask-like facial syndrome (NMLFS) requires further research due to its rarity and variable expressivity.
• Intellectual disability is frequently associated with NMLFS, underscoring the importance of developmental monitoring.
• This case adds to the scarce global data on NMLFS, aiding in recognizing this rare syndrome.