Clinical features:
(1) partial or complete sacral agenesis
(2) anomalies of the lumbosacral spine
(2a) scoliosis or kyphoscoliosis
(2b) myelomeningocele
(3) anomalies of anus and rectum (imperforate anus, etc)
(4) anomalies of the kidney and bladder
(4a) renal agenesis
(4b) renal dysplasia
(4c) hydronephrosis and/or hydroureter
(4d) fused kidneys
(4e) vesicoureteral reflux
(4f) absent bladder
(4g) exstrophy
(5) anomalies of genital tract
(5a) rectovaginal or rectourethral fistula
(5b) anomalies of the external genitalia
(5c) hypospadias
(5d) Mullerian duct defects
(6) anomalies in the pelvis and lower extremities
(6a) flexion inversion and external rotation
(6b) equinovarus and calcaneovarus
(6c) hip dislocation
(6d) pelvic deformities
(6e) absent fibulae
(7) neurological deficit
(7a) sensory and motor deficits in the lower extremities
(7b) incontinence for urine and stool
where:
• Bilateral renal agenesis is incompatible with life.
• Abnormalities of the urinary tract may be associated with oligohydramnios.
Additional malformations that may be present
(1) anomalies of the ribs
(2) anomalies of fingers (syndactyly, polydactyly)
(3) hypoplastic or absent radii
(4) tracheoesophageal fistula
(5) abdominal wall defects
(6) malrotation of the gut
(7) duodenal or colonic atresia
(8) hydrocephalus
(9) congenital heart defects
(10) facial clefts
(11) strabismus
(12) Pierre-Robin syndrome
