Total 11 clinical symptoms reported for Cardiospondylocarpofacial syndrome
| Abnormal form of the vertebral bodies |
Abnormal morphology of vertebral body.
Synonyms:Abnormal vertebral bodies; Abnormally shaped vertebrae |
Very frequent |
| Brachydactyly |
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Synonyms:Brachydactyly syndrome; Short fingers or toes |
Very frequent |
| Conductive hearing impairment |
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Synonyms:Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive |
Very frequent |
| High, narrow palate |
The presence of a high and narrow palate.
Synonyms:Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth |
Very frequent |
| Mitral regurgitation |
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Synonyms:Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation |
Very frequent |
| Mitral valve prolapse |
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
|
Very frequent |
| Severe short stature |
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe |
Very frequent |
| Short palm |
Short palm.
Synonyms:Short palm |
Very frequent |
| Synostosis of carpal bones |
Synonyms:Fusion of wrist bones |
Very frequent |