Bowen–Conradi syndrome
Bowen-Conradi syndrome is a condition that affects several bodily systems and
typically results in infant death. Affected people have low birth weights, struggle
with eating, and develop extremely slowly. Their head is longer than expected
relative to its breadth while having an extremely tiny head overall (microcephaly)
(dolichocephaly). A broad, high-bridged nose and an exceptionally tiny jaw
(micrognathia) and chin are distinguishing characteristics of the face. Affected
people frequently have feet with outwardly rounded bottoms (rocker-bottom
feet), limited joint mobility, and pinky fingers that are bent towards or away from
the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly).
Seizures, structural abnormalities of the kidneys, heart, brain, or other organs,
and an opening in the lip (cleft lip) with or without an opening in the roof of the
mouth are additional characteristics that appear in some afflicted people (cleft
palate). Males who are affected may have undescended testes or a urethral
opening on the bottom of the penis (hypospadias) (cryptorchidism).
Infants with Bowen-Conradi syndrome typically do not live past 6 months and do
not meet developmental milestones like smiling or sitting.
Among the three Hutterite sects, Bowen-Conradi syndrome affects around 1 in
355 infants in the Hutterite population of Canada and the United States (leuts). In
the medical literature, a few non-Hutterites have been identified who have
Bowen-Conradi syndrome-like signs and symptoms. Experts disagree on whether
these people have Bowen-Conradi syndrome or an illness that is comparable but
different.
