Schisis-association

Claude Colin

CH Calais, France

This is a fetus with:
1. an anencephaly + craniorachischisis (or iniencephaly ?)
2. abdominal wall defect (omphalocele)
3. left renal agenesis.

The heart

coeur

The legs

JAMBESPROFIL
JAMBES

The chest

THORAX

Lateral view

profil

The orbits

ORBITES

The fetus after delivery

BStete
FacePost

FaceAnt
DSCN0169

"The neural tube defects (anencephaly, encephalocele, spina bifida cystica), oral clefts (cleft lip +/- palate, posterior cleft palate), omphalocele, and diaphragmatic hernia associate with one another far more frequently than at the expected random combination rates. The combination of other abnormalities does not exceed the expected rate. Thus, two or more combinations of schisis-type abnormalities without other defects were treated as a provisional entity. The schisis-association is practically a lethal abnormality. It occurs more often in girls (sex ratio: 0.33), in twins (4.6%), in breech presentations (13.7%), in association with lower mean birth weight (1,931 gm), and in association with a shorter gestation period (36.4 weeks). Mothers of affected children have a significantly higher miscarriage rate; occurrence of schisis-type abnormalities was found in 3.7% of the sibs of index patients. However, except for one, the sib-occurrences of schisis abnormalities were isolated neural tube defects or oral clefts."

From Czeizel A. Schisis-association. Am J Med Genet 1981;10(1):25-35

These are the features reported in OMIM

  • Anencephaly/craniorachischisis
  • Cleft palate
  • Cleft upper lip (non-midline)
  • Congenital hernia of diaphragm
  • Meningocele/meningo-myelocele
  • Oesophageal atresia or stenosis
  • Omphalocele/exomphalos
  • Posterior encephalocele/meningocele
  • Spina bifida occulta
  • Spinal dysraphism

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