Phenotypes associated with the disease Diaphanospondylodysostosis (ORPHA:66637):
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:66637)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- 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:66637)
- Narrow pelvis bone (HP:0003275): Reduced side to side width of the pelvis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Absent or minimally ossified vertebral bodies (HP:0004599). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Multiple renal cysts (HP:0005562): The presence of many cysts in the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Abnormal vertebral segmentation and fusion (HP:0005640). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)
- Enlarged thorax (HP:0100625). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:66637)