Phenotypes associated with the disease Craniorachischisis (ORPHA:63260):
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63260)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63260)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63260)
- Anencephaly (HP:0002323): Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63260)
- Myelomeningocele (HP:0002475): Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63260)
- Cervical spina bifida (HP:0005857). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63260)
- Spinal dysraphism (HP:0010301): A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:63260)
- Bifid sternum (HP:0010309): The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63260)
- Sirenomelia (HP:0010497): A developmental defect in which the legs are fused together. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:63260)