A further patient with van Maldergem syndrome

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Van Maldergem syndrome is a rare genetic disorder characterized by distinct facial features, developmental delay, and limb abnormalities.
• Consanguinity in parents is noted, which can increase the risk of autosomal recessive disorders.

Observation:

• A 4-year-old male presented with severe developmental delay, talipes equinovarus, camptodactyly with interphalangeal pterygium, joint laxity, bilateral microtia, and dysmorphic facial features.
• Additional findings included epicanthus, telecanthus, short palpebral fissures, a broad flat nasal bridge, dental malocclusion, pharyngeal instability requiring tracheostomy, inguinal hernia, hip subluxation, small kidneys, and genital abnormalities.
• The patient experienced severe feeding difficulties necessitating tube feeding.

Findings:

• The clinical presentation strongly suggested van Maldergem syndrome.
• Metabolic and chromosomal analyses were normal.
• Molecular karyotyping identified parental copy number variations (CNVs) unlikely to be causative.

Implications:

• This case expands the recognized clinical spectrum of van Maldergem syndrome to include genital malformations, hernia, pharyngeal instability, and hip subluxation.
• Further research is needed to understand the genetic basis and full phenotypic variability of van Maldergem syndrome.