A boy with multiple congenital anomalies including median cleft palate
, bilateral hearing loss, clino- and camptodactyly, bilateral single p
almar flexion creases, severe hypotonia with kyphoscoliosis and respir
atory insufficiency, failure to thrive, bilateral cryptorchidism and f
acial dysmorphism (epicanthus, a flat nasal bridge, a small mouth, a s
mall nose with anteverted nostrils, low-set ears, a prominent forehead
, microretrognathia) is presented. His mother has a median cleft palat
e, bilateral hearing loss, single palmar flexion creases, and short st
ature. An autosomal or X-linked dominant syndrome with more severe exp
ression in the proband than in his mother is suggested.