Symptoms and Description
Cerebrocostomandibular syndrome is a rare genetic disorder that presents with a typically small jaw, abnormal rib development and a small thorax combined with other abnormalities. It is a very rare genetic disorder which was first reported in 1966, and so far only 65 cases have been recorded and studied in the world.
These patients display a variety of rib malformations, deformities of the palate, micrognathia (very tiny jaw size), varying degrees of mental deficiency and severe cerebral under-development. The symptom range of rib defects vary from deformities in just three to four dorsal rib segments to complete absence of ossification.
In roughly 50 percent of the recorded cases so far, there is a high degree of cerebral involvement which invariably leads to mental retardation, microcephaly and histological abnormalities. The extreme type of rib malformations seen in cases of cerebrocostomandibular syndrome are never seen in any other disease, and this helps to a great extent in the primary diagnosis at birth.
The typical symptoms of cerebrocostomandibular syndrome also include defects of the palate in which the palate is short, hard and has a central hole, lack of soft palate and uvula, micrognathia, glossoptosis, and serious costovertebral abnormalities. A barking cough is also seen in patients who have tracheal cartilage abnormalities.
Other symptoms of cerebrocostomandibular syndrome include brain dysfunction, severe cerebral defects, vertebral abnormalities, subluxation of the elbows, dental defects, renal abnormalities, deformities of fingers and toes, deafness, hip dislocation and respiratory insufficiency.