Roberts Syndrome

Clinical Characteristics
Ocular Features: 

The eyes often appear prominent as the result of shallow orbits.  Hypertelorism and microphthalmia can be present.  The sclerae can have a bluish hue.   Cataracts and central corneal clouding plus scleralization and vascularization of the peripheral corneas are sometimes seen.  Lid colobomas and down-slanting palpebral fissures may be present.

Systemic Features: 

Failure of both membranous and long bones to grow properly lead to a variety of abnormalities such as craniosynostosis, hypomelia, syndactyly, oligodactyly, malar hypoplasia, short neck, micrognathia, and cleft lip and palate.  The long bones of the limbs may be underdeveloped or even absent.  Contractures of elbow, knee, and ankle joints are common as are digital anomalies.  Low birth weight and slow postnatal growth rates are usually result in short stature.  The hair is often sparse and light-colored. 

Mental development is impaired and some children are diagnosed to have mental retardation.  Cardiac defects are common.  Facial hemangiomas are often present as are septal defects and sometimes a patent ductus arteriosus.  External genitalia in both sexes appear enlarged.  The kidneys may be polycystic or horseshoe-shaped.


This is an autosomal recessive condition caused by mutations in the ESCO2 gene (8p21.1).  Mutations in the same gene are also responsible for what some have called the SC phocomelia syndrome (269000) which has a similar but less severe phenotype.  Some consider the two disorders to be variants of the same condition and they are considered to be the same entity in this database.  The gene product is required for structural maintenance of centromeric cohesion during the cell cycle.  Microscopic anomalies of the centromeric region (puffing of the heterochromatic regions) are sometimes seen during cell division.

The Baller-Gerold syndrome (218600) has some phenotypic overlap with Roberts syndrome but is caused by mutations in a different gene (RECQL4).

Treatment Options: 

Severely affected infants may be stillborn or die in infancy.  Other individuals live to adulthood.  There is no treatment for this condition beyond specific correction of individual anomalies.

Article Title: 


Xu B, Lu S, Gerton JL. Roberts syndrome: A deficit in acetylated cohesin leads to nucleolar dysfunction. Rare Dis. 2014 Jan 21;2:e27743. eCollection 2014.

PubMedID: 25054091

Goh ES, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel CF. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 2010 Feb;152A(2):472-8.

PubMedID: 20101700

Tomkins D, Hunter A, Roberts M. Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet. 1979;4(1):17-26. PubMed PMID: 495649.

PubMedID: 495649

Herrmann J, Opitz JM. The SC phocomelia and the Roberts syndrome: nosologic aspects. Eur J Pediatr. 1977 Jun 1;125(2):117-34.

PubMedID: 870834