Roberts Syndrome

Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.


Cluster Number:
Wiki Number: PW191
Diagnosis: Roberts Syndrome
US Patients:
World Patients: 150 known individuals, identified only in 1995.
Sex Ratio:
Age Onset: Womb, very short life expectancy, except for those only mildly affected.
Brain Area:
Symptoms: also called, “pseudothalidomide syndrome”Tiny formation of arms and legs, malformed bones in face & head, prenatal retardation
Progression: Low birth weight and length, limbs are shortened or malformed; malformed facial areas; parents may be too close genetically.
Causes: Mutation of the ESCO2 gene on chromosome 8. The genes are autosomal recessive-a defective gene from each parent.


The world-wide medical research
reports chosen for each diagnosis 

Clicking each title opens the
PubMed article’s summary-abstract.

  • Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder
    by Ester Di Muro on August 27, 2021

    The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the complex and the chromosomes. Mutations in the genes coding for these proteins have been demonstrated to cause multisystem developmental disorders known as "cohesinopathies". The most frequent and well...

  • An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage
    by Michael G Mfarej on December 31, 2020

    Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality. The genetic basis for RBS is linked to autosomal recessive loss-of-function mutation of the establishment of cohesion (ESCO) 2 acetyltransferase. ESCO2 is an essential gene that targets the DNA-binding cohesin complex. ESCO2 acetylates alternate subunits of cohesin to orchestrate vital cellular...

  • Pseudo-Roberts Syndrome: An Entity or Not?
    by Behzad Salari on October 7, 2020

    Roberts syndrome is a genetic disorder characterized by tetra-phocomelia with abnormalities of ESCO2. We report a male stillborn with tetra-phocomelia and no ESCO2 mutation. Case report: Pre- and post-natal imaging and autopsy findings included schizencephaly, phocomelia of four limbs, micrognathia, oligodactyly, and cardiopulmonary malformations. Microcephaly on pre-natal imaging was not confirmed by autopsy examination. Karyotype, prenatal chromosome microarray and ESCO2 gene testing were...

  • Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2
    by Piranit Nik Kantaputra on September 25, 2020

    CONCLUSION: Our findings confirm that a homozygous mutation in ESCO2 is the underlying cause of Juberg-Hayward syndrome. Microcephaly does not appear to be a consistent feature of the syndrome.