Cardiospondylocarpofacial syndrome is a very rare genetic disorder which is characterized by cardiac, digital, osseous anomalies with facial dysmorphisms. Cardiospondylocarpofacial syndrome is believed to be caused by autosomal dominant mutations of the MAP3K7 gene.
Signs and symptoms Cardiospondylocarpofacial syndrome manifests itself in many different areas of the body. It causes heart defects, multiple congenital anomalies, and dysmorphic features. 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
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.
References