Cardiospondylocarpofacial syndrome
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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 synostosis
Less 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
- Decreased 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 palpebral 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.