Roberts-SC Phocomelia syndrome (RBS)

What is Roberts-SC Phocomelia syndrome?

It is a rare genetic syndrome. The syndrome is distinguished by growth delays (both before and after birth), as well as abnormalities affecting the limbs of the body (arms and legs) and abnormalities affecting the skull and face. The symptoms of the syndrome are similar to those that present with Cornelia de Lange syndrome and Holt-Oram syndrome.

This syndrome is also known as:
Long bone deficiencies associated with cleft lip-palate; Roberts syndrome; SC Phocomelia syndrome; SC Pseudothalidomide syndrome.

What gene changes cause Roberts-SC Phocomelia syndrome?

Mutations in the ESCO2 gene are responsible for the syndrome.

It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Roberts-SC Phocomelia syndrome?

The symptoms may vary between affected individuals. It is not uncommon for infants with the syndrome to present with life-threatening complications shortly after birth.

  • Growth delay, before and after birth, is common with the syndrome.
  • Abnormalities affecting the limbs include underdeveloped bones. In severe cases, bones may be missing in all four limbs- arms and legs. Generally, this abnormality affects the arms more severely than the legs. Other issues affecting the limbs include contractures or a permanent fixture of the joints- specifically the knees and elbows. Some individuals may also have missing digits, specifically missing fingers. Webbing of the fingers and toes is common, as is club foot (specifically the type where the heel is raised and faces outwards from the body).
  • Abnormalities affecting the skull and face are varied. Unique facial features of the syndrome include a small and wide head, a cleft lip which also sometimes includes a cleft palate, a small jaw, sparse and silvery hair, and low-set ears that may develop without lobes. Widely spaced eyes, very small eyes, cloudy corneas, and prominent eyes are also common with the syndrome. In some affected individuals, the whites of the eyes are blue.
  • Patches of pink or dark red on the skin due to collections of small blood vessels may also present with the syndrome.

In some individuals, genital abnormalities are present with the syndrome.

Possible clinical traits/features:
Postnatal growth retardation, Hypertelorism, Hypospadias, Opacification of the corneal stroma, Frontal encephalocele, Underdeveloped nasal alae, Bicornuate uterus, Hydrocephalus, Horseshoe kidney, High palate, Abnormality of the metacarpal bones, Cleft palate, Polyhydramnios, Eyelid coloboma, Cataract, Cafe-au-lait spot, Wide nasal bridge, Brachycephaly, Accessory spleen, Blue sclerae, Atrial septal defect, Biliary tract abnormality, Malar flattening, Cleft upper lip, Clitoromegaly, Cryptorchidism, Craniosynostosis, Cranial nerve paralysis, Cystic hygroma, Ankle flexion contracture, Downslanted palpebral fissures, Brachydactyly, Polycystic kidney dysplasia, Long penis, Enlarged labia minora, Elbow flexion contracture, Wrist flexion contracture, Micrognathia, Microphthalmia, Midface capillary hemangioma, Low-set ears, Narrow naris, Knee flexion contracture, Intellectual disability, Short neck, Autosomal recessive inheritance, Hand oligodactyly, Patent ductus arteriosus, Syndactyly, Shallow orbits, Phocomelia.

How is Roberts-SC Phocomelia syndrome diagnosed?

To find out if someone has a diagnosis of Roberts-SC Phocomelia syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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