Rare disease found in girl born with giant feet: 'Never seen before'

·News Reporter
·2-min read

A little girl will require surgery after a rare condition saw her born with large feet and toes.

The parents of the eight-month-old from India noticed their daughter had gradual enlargement of her lower limbs since birth, according to the case in medical journal Cureus.

“This was not associated with any delayed attainment of developmental milestones. There was no history of trauma, pain or skin changes. There is no relevant family history of any similar diseases. The upper limbs were normal,” researchers wrote.

She was diagnosed with macrodystrophia lipomatosa (MDL) which is a condition that occurs before or after birth.

The feet of an eight-month-old girl with macrodystrophia lipomatosa are pictured.
This little girl was diagnosed with macrodystrophia lipomatosa (MDL) after her parents noticed enlargement in her toes. Source: Cureus

MDL is characterised by “gigantism”, in this case in the little girl’s feet.

The little girl underwent an ultrasound and the larger size of the toes and feet was found to be tissue. She has been referred for corrective surgery.

Researchers wrote the girl’s case has “never been reported before” referring to the fact her MDL involved all 10 toes on both of her feet.

An X-ray shows the feet of an eight-month-old girl with macrodystrophia lipomatosa.
The X-ray shows the thick tissue around the girl's toe bones. Source: Cureus

“It is important to report such anecdotal cases to get knowledge about their clinicopathological behaviour and standardise optimal treatment options since prospective studies are not feasible due to rarity of the disease and paucity of data,” researchers wrote.

It is not known exactly what causes MDL.

Some theories include an association with the PIK3CA gene which is responsible for producing a protein which affects cell function.

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