Roberts Syndrome
Patient Information
Characteristics
Background and History
Roberts syndrome is a severe and rare heritable malformation disorder. Defects in bone formation and organ development often result in physical deformities and subnormal mental functioning. John Bingham Roberts was a prominent plastic surgeon in Philadelphia.
Clinical Correlations
Birth weight is usually low and slow growth rates after birth result in a short stature. Cleft lip/palate are frequently present. Mental development is usually delayed and some children are mentally retarded. The long bones in the limbs are underdeveloped and may be absent. Joint contractures are common. The fingers and toes may be fused or shortened while the skull is often misshapen. The neck is short, the jaw and midface are underdeveloped and heart defects are common. The kidneys are often malformed. The hair may be sparse and is often light-colored. The external genitalia appear enlarged relative to the child’s size. Some patients have cataracts and cloudiness of the corneas (the clear ‘windshield’ of the eye). Shallow eye sockets result in prominent eyes and sometimes the eyelids are incompletely formed. The ears are often set low.
Genetics
Inheritance
This is an autosomal recessive disorder in which the parents are unaffected carriers and each contributes their single mutant gene to the child who requires two mutations to be affected. Such parents, who are often related to each other, can expect that 1 out of 4 of their children will inherit Roberts syndrome.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
Pediatricians, orthopedists, and neurologists along with ophthalmologists are most likely to make this diagnosis. There is no treatment other than possible surgical correction of the more severe malformations. Stillborn births and neonatal death have been reported but other patients can live to adulthood.
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