Cardiospondylocarpofacial syndrome
Cardiospondylocarpofacial syndrome is a very rare genetic disorder which is characterized by cardiac, digital, osseous anomalies with facial dysmorphisms

Signs and symptoms
The following is a list of the symptoms most commonly exhibited:
Variable vertebral anomalies
Brachydactyly
Conductive hearing loss
High palate
Mitral regurgitation
Mitral valve prolapse
Short stature, nearing dwarfism
Short palms
Carpal bone synostosisLess common symptoms include:

Failure for permanent teeth to erupt
Teeth misalignment
Horseshoe kidney
Dentition anomalies
Ocular anomalies
Nostril anteversion
Epiphysis in the shape of a cone
Congenital hearing loss
Decresed testes size (males)
Skeletal maturation delay
Feeding difficulties
Freckles
Apple cheeks
Gastroesophageal reflux
Hypertelorism
Joint hypermobility
Long philtrum
Rotated ears
Pseudoepiphyses
High frequency of middle ear infections
Rib synostosis
Scoliosis
Small foot
Strabismus
Tarsal synostosis
Telecanthus
Upslanted parpebral fissures
Broad nasal bridge
Vesicoureteral reflux

Causes
It is caused by autosomal dominant mutations of the MAP3K7 gene in the long arm of chromosome 6.

Epidemiology
Only 12 cases worldwide have been described in medical literature.


== References ==