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Mandibuloacral dysplasia type A in childhood
L Garavelli1, M R D'Apice, F Rivieri
1Clinical Genetic Unit, Obstetric and Pediatric Department, S Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
American Journal of Medical Genetics. Part A
|September 19, 2009
Summary
Mandibuloacral dysplasia type A (MADA) can now be diagnosed in young children, presenting with distinct facial and digital features. Early identification is supported by skeletal findings and confirmed through genetic testing of the LMNA gene.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Mandibuloacral dysplasia type A (MADA) is a rare genetic disorder typically diagnosed in adulthood due to its slow progression.
- Pediatric MADA cases are infrequently reported, making early diagnosis challenging.
Observation:
- Two children, a 5-year-old boy and a 4-year-old girl, presented with early-onset MADA symptoms.
- Clinical features included ocular proptosis, thin nose, bulbous fingertips, and type A lipodystrophy.
- Skeletal surveys revealed wormian bones, thin clavicles, and acro-osteolysis affecting distal phalanges.
Findings:
- Both patients were homozygous for the LMNA gene missense mutation c.1580G>A (p.R527H).
- This confirms that MADA can manifest phenotypically in preschool-aged children.
- Key diagnostic indicators include characteristic facial features, lipodystrophy, and digital anomalies.
Implications:
- The findings expand the known age range for MADA presentation.
- Early MADA diagnosis in children is feasible with careful clinical observation and genetic confirmation.
- This facilitates timely management and genetic counseling for affected families.
