Rachischisis

Rachischisis
Classification and external resources
ICD-10	Q05, Q76.0
ICD-9-CM	741, 756.17
MeSH	C10.500.680.800

Rachischisis (Greek: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental birth defect involving the neural tube. This anomaly occurs in utero, when the posterior neuropore of the neural tube fails to close by the 27th intrauterine day. As a consequence the vertebrae overlying the open portion of the spinal cord do not fully form and remain unfused and open, leaving the spinal cord exposed. Patients with rachischisis have motor and sensory deficits, chronic infections, and disturbances in bladder function. This defect often occurs with anencephaly.

Craniorachischisis is a variant of rachischisis that occurs when the entire spinal cord and brain are exposed - simultaneous complete rachischisis and anencephaly. It is incompatible with life; affected pregnancies often end in miscarriage or stillbirth. Infants born alive with craniorachischisis die soon after birth.^[1]^[2]

Neural tube defect	Anencephaly Acephaly Acrania Acalvaria Iniencephaly Encephalocele Chiari malformation
Other	Microcephaly Congenital hydrocephalus Dandy–Walker syndrome other reduction deformities Holoprosencephaly Lissencephaly Pachygyria Hydranencephaly Septo-optic dysplasia Megalencephaly CNS cyst Porencephaly Schizencephaly Polymicrogyria Bilateral frontoparietal polymicrogyria

Spinal cord

Neural tube defect	Spina bifida Rachischisis
Other	Currarino syndrome Diastomatomyelia Syringomyelia

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

Appendicular
limb / dysmelia

Arms

clavicle / shoulder:	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip:	Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa vara
knee:	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity:	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb
reduction deficits / limb:	Acheiropodia ectromelia Phocomelia Amelia Hemimelia
multiple joints:	Arthrogryposis Larsen syndrome Rapadilino syndrome

Axial

Skull and face

Craniosynostosis:	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis:	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome
other:	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum

References

↑ "Craniorachischisis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-02-16.
↑ "Orphanet: Craniorachischisis". www.orpha.net. Retrieved 2017-02-16.

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Rachischisis

See also

References