diaphanospondylodysostosis
Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
MONDO:0019694
spondylodysplastic dysplasia
is_a
diaphanospondylodysostosis
exact
vertebral ossification, defect in, with nephrogenic rests
exact