Costello syndrome
What are the symptoms?
Children and adults with CS resemble one another facially. Facial features include Macrocephaly (a relatively large head), low-set ears with large, thick lobes and thick lips. Excessive loose skin on the palms, fingers and soles, which may become thickened over time, is very characteristic. Many children develop Papillomata (small wartlike growths) around the mouth, nostrils and other moist body areas.
Joint abnormalities are relatively common. For example, there may be increased movement at the small joints of the hand, unusual posturing at the wrist and restriction of movement at the elbow. Tightening of the tendon at the ankle may require surgery. Scoliosis is also relatively common.
Despite supplemental feeding, failure to grow normally is usual in CS and children and adults will be short. Growth hormone treatment has been used in some cases.
Delayed developmental milestones include sitting, crawling, talking and walking. Most children will walk. Speech and language skills are usually acquired but not all children will acquire age appropriate skills. Memory skills are good. Most children will require special schooling and supervised living in adult life. After the first years of life, people with CS are described as very sociable and affectionate with a good sense of humour.
Some individuals with CS have developed cancer including rhabdomysarcoma and neuroblastoma. The cancer risk appears to be greatest in the first years of life.
Background
| How is it diagnosed? ![]()