Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.

Clinical presentation

• general

  • intrauterine growth restriction

  • postnatal growth and developmental delay

  • failure to thrive

  • thrombocytopenia

• craniofacial 

  • silvery blonde and sparse scalp hair

  • microcephaly

  • hypertelorism

  • prominent eyes (exophthalmos) due to the shallowness of the orbits

  • coloboma

  • congenital cataracts

  • wide nasal bridge/hypoplastic nasal alae

  • facial hemangioma

  • midfacial cleft

  • bilateral cleft lip/palate

  • prominent premaxilla

  • delayed eruption of permanent teeth

  • dysplastic ears, including hypoplastic lobes

  • brain malformations

• skeletal

  • phocomelia

  • tetramelia

  • asymmetrical limb reduction

  • oligodactyly

  • syndactyly

  • flexion joint contractures

• renal malformations

  • renal dysplasia

  • polycystic kidneys

  • horseshoe kidney

• congenital cardiac anomalies

  • atrial septal defect

  • patent ductus arteriosus

  • common atrioventricular canal

• genitourinary malformations

  • hypogonadism

  • hypospadias

  • cryptorchidism

  • macropenis

  • clitoromegaly

Pathology

It has an autosomal recessive inheritance, and is caused by mutations to the ESCO2 gene ³.

Radiographic features

• limb

  • asymmetrical reduction anomalies of all extremities: ~90%

  • synostoses: humeroradial/humeroulnar, femorotibial

  • radial deviation of hands

  • oligodactyly/brachydactyly: 80%

  • clinodactyly of index finger

  • soft tissue syndactyly: 40%

  • clubfoot (talipes equinovarus)

• cranial

  • microcephaly, brachycephaly, oxycephaly

  • Wormian bones

• facial

  • maxillary agenesis

  • cleft palate

  • orbital hypertelorism

• truncal/rib

  • fused ribs

  • spina bifida

  • platyspondyly

Differential diagnosis

• thalidomide embryopathy