Table 1: Comprehensive list of syndromic spina bifida.

Mode of inheritanceConditionReferences

Autosomal recessive(1) Jarcho-Levin syndrome (spondylocostal dysostosis): shortened trunk, opisthotonus position of the head, short neck, barrel-shaped thorax, multiple wedge shaped and block vertebrae, spina bifida, and rib anomalies.
(2) Cerebrocostomandibular syndrome: Pierre Robin anomaly, speech difficulties, severe micrognathia with glossoptosis, small thorax with rib-gap defects, occasional intellectual impairment, and spina bifida.
(3) Human athymic nude/SCID: T-cell defect, congenital alopecia, nail dystrophy, and spina bifida.
(4) Neu-Laxova syndrome: spina bifida, severe intrauterine growth retardation, microcephaly, protruding eyes, abnormal skin, and limb defects.
(5) PHAVER syndrome: spina bifida, pterygia, heart defects, segmentation defects of the spine, and radioulnar synostosis.

Autosomal dominant(1) DiGeorge syndrome: hypocalcemia, parathyroid hypoplasia, thymic hypoplasia, conotruncal cardiac defects, and facial features. A case of associated spina bifida was reported.
(2) Waardenburg syndrome:
 Type I, wide bridge of the nose, lateral displacement of the inner canthus, pigmentary disturbance of frontal white blaze of hair,
 heterochromia iridis, white eye lashes, leukoderma, cochlear deafness, and spina bifida.
 Type III, partial albinism, blue eyes, deaf-mutism, undeveloped muscles, fused joints in the arms, skeletal dysplasia, and spina bifida.
(3) Sacral defect with anterior meningocele (SDAM): sacral agenesis and spina bifida.
(4) Czeizel-Losonci syndrome: split hand/split foot, hydronephrosis, and spina bifida.

X-Linked(1) Focal dermal hypoplasia (male lethality, atrophy and linear pigmentation of the skin, papillomas of skin and mucosae, ocular defects, hypoplastic teeth, and digital anomalies apart from spina bifida).
(2) Zic3 (spina bifida with abdominal situs inversus, complex cardiac defects, asplenia, and polysplenia).
(3) Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome).

Sporadic(1) Isolated hemihyperplasia: asymmetric overgrowth of one or more regions with one reported case of lumbar myelomeningocele.
(2) Diprosopus: conjoined twins consisting of one neck, one body, and a single hand with various forms of duplication of the craniofacial structures. May be associated with spina bifida.
(3) Pentalogy of Cantrell: midline supraumbilical abdominal wall defect, defect of the lower sternum, defect of the diaphragmatic pericardium, deficiency of the anterior diaphragm, and congenital cardiac anomalies. Spina bifida has been reported.
(4) Weissenbacher-Zweymüller syndrome: congenital neonatal rhizomelic dwarfism, metaphyseal widening of the long bones, vertebral coronal clefts, micrognathia, cleft palate, depressed nasal root, hypertelorism, protruding eyes, occasional sensorineural deafness, and spina bifida.