Ear-patella-short stature syndrome

Ear-patella-short stature syndrome (also known as Meier-Gorlin syndrome or ear-patella-short stature syndrome) is an extremely rare genetic disorder characterized by the triad of small ears (microtia), absent or hypoplastic patellae (kneecaps), and short stature. The condition is present from birth, with affected individuals typically showing significant prenatal and postnatal growth restriction. The ears are notably small and may have a simplified structure, which is often one of the first recognizable features at birth. Beyond the three cardinal features, individuals with this syndrome may exhibit additional skeletal abnormalities, feeding difficulties in infancy, and a slender build. Some patients may have mammary hypoplasia (underdeveloped breast tissue), particularly in females. Pulmonary emphysema or lung abnormalities have been reported in some cases. Importantly, intellectual development is typically normal in most affected individuals, although mild developmental delays have occasionally been described. Facial features may include a small mouth (microstomia) and micrognathia (small jaw). Meier-Gorlin syndrome is caused by mutations in genes involved in DNA replication licensing, including ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45, MCM5, and DONSON. Treatment is primarily supportive and symptomatic, as no specific cure exists. Management may include growth hormone therapy evaluation, orthopedic monitoring for patellar abnormalities, and regular developmental assessments. Surgical interventions may be considered for ear reconstruction or orthopedic complications when needed.

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