Medical Definition of Bartsocas-Papas Syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

Bartsocas-Papas syndrome: a congenital genetic disorder resulting in severe deformity of the face and extremities characterized by webbing of the lower extremities. Babies generally die in the womb, otherwise soon after birth. The disorder is inherited in an autosomal recessive manner, requiring an abnormal gene from each parent for it to occur.

The first detailed account of Bartsocas-Papas syndrome was in 1600 and reported in a pamphlet in the Oxford Bodleian Library as follows:

The child, whose gender was uncertain to the observers, was born to first cousins. "A most straunge, and true discourse, of the wonderfull iudgement of God. Of a monstrous deformed infant, begotten by incestuous copulation, betweene the brother's sonne and the sister's daughter, being both vnmarried persons."

Adhering closely to the language of the day, the infant is described thus:

Head longer than ordinary children with no hair on the head or eyebrows.

Both eyes standing far out of the head, unequal to each other -- right eye very small, like a black sloe sticked half out in the flat face -- no eyelid or eyepit - "as it were a bullet sticking in a plain wall"; the left eye was very big and eminent, sticking out like the other but with eyelids which were drawn the upper up and the lower down as if inside out.

Nose depressed flat to face -- no nostrils -- at lower end a round button of fleshy substance the size of a nut. On either side, higher than the nose the upper lip was slit or hare-thorne from which two slits thro' the pallet or roof of the mouth there passed two hoolow trenches, almost two fingers deep -- to the gullet, which seemed to be the passage of the nostrils -- the lower part of the mouth on either side of the tongue like a deep trench.

Mouth smaller than usual -- no gunms, jawbones or lips.

Face more wrinkled than most -- grim to behold.

No thumbs or any outward partition of fingers -- fingers covered all with one skin, "as with a mitten," but with joints.

Finger of left hand (digitus annularis/ring finger) had nail and was separated towards the end.

Not clear if the child was male or female -- had perfect members of neither -- urine issued out of a small hole in the proper place -- sometimes seemed more male, sometimes more female.

Knees up to the belly, legs fixed to buttocks; the calf of the left leg growing to the buttock, and thigh unto the small of the legge; but the right leg quite down to the heele, within two fingers breadth.

Right foot bowed towards the left and joined to it by a string of flesh at the ends of the big toes -- the rest of the toes covered with one skin as were the hands.

The body bigger and longer than other children.

The child died on the third day and was said not to sleep because "it had no eyelids."

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Reviewed on 12/21/2018

REFERENCES:

Iones, R. "A most straunge, and true discourse..." Bodleian Library (Oxford) reference: Mal. 640(10). London, 1600.

Turnpenny, P.D., and R. Hole. "The first description of lethal pterygium syndrome with facial clefting (Bartsocas-Papas syndrome) in 1600." J Med Genet 37 (2000): 314-315.

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