CHOPS Syndrome
Patient Information
Characteristics
Background and History
This presumed hereditary syndrome has been identified in three unrelated individuals. The title is derived from the first letters of the important features of this condition.
Clinical Correlations
The face is unusually round and full. There is an abundance of hair growth and even the eyebrows and eyelashes are full. There is an apparent increase in the distance between the two eyes. Among the three patients so far reported, one had cataracts and one had evidence of damage to the optic nerves (atrophy).
Patients have developmental delay and cognitive impairments. They are short in stature and obese. They may have hearing loss and heart problems. There may be deformities in the genitourinary system such as malformed kidneys while males have undescended testes. Because the breathing tube (larynx and trachea) are incompletely developed there may be difficulties in breathing and regurgitation of food material which leads to repeated lung infections.
Genetics
Inheritance
An unpaired mutation in a specific gene has been found in the three reported patients. The nature of this mutation suggests that affected individuals would have widespread problems since the gene is active in embryogenesis, i.e., active during development before birth. No familial cases have been found so no transmission pattern has been reported but an individual would pass on the gene change to each offspring with a 50% probability.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission
Diagnosis and Prognosis
This syndrome should be diagnosable at birth but its rarity makes it unlikely that it would be recognized. Pediatricians and geneticists are the most likely to collaborate but ultimately a gene test would be needed to confirm the diagnosis.
No information on longevity is available. No treatment is known for the general condition. Two of the three reported patients required a tracheostomy for breathing problems and pulmonary hygiene. Care is largely supportive.
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