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Mandibulo-acral dysplasia in a one-year-old boy
G Vantrappen1, L Feenstra, C Macours-Verelst
1Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
Mandibulo-acral dysplasia is a rare genetic disorder. This report details a case study of a 1-year-old boy with this condition, highlighting key clinical features and normal psychomotor development.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Mandibulo-acral dysplasia (MADS) is an autosomal recessive disorder.
- Characterized by skeletal abnormalities and skin manifestations.
- MIM 248370.
Observation:
- A 1-year-old boy presented with symptoms at 6 months.
- Clinical features included short stature, brittle hair, thin scalp skin with visible veins.
- Facial dysmorphia: micrognathia, prominent eyes, thin nose.
Findings:
- Skeletal findings: hypoplastic terminal phalanges and acroosteolysis.
- Normal psychomotor development was observed.
- Confirms typical presentation of Mandibulo-acral dysplasia.
Implications:
- Highlights the importance of early diagnosis for genetic syndromes.
- Contributes to the understanding of Mandibulo-acral dysplasia phenotypes.
- Informs genetic counseling and management strategies for affected families.
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