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Roberts syndrome

Dr Abhilash Sandhyala and Filip Marcinowski et al.

The Roberts Syndrome (RBS) (also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, Appelt-Gerken-Lenz syndrome) is rare congenital malformation syndrome. It has an autosomal recessive inheritance.

Clinical features

general
- intrauterine growth restriction (IUGR)
- post-natal growth retardation
- failure to thrive (FTT)
- thrombocytopaenia
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 haemangioma
- midfacial cleft
- bilateral cleft lip / palate
- prominent premaxilla
- delayed eruption of permanent teeth
- dysplastic ears, hypoplastic lobes
- brain malformations
skeletal
- phocomelia
- tetramelia
- asymmetrical limb reduction
- oligodactyly
- syndactyly
- flexion joint contractures
renal malformations :
congenital cardiac anomalies
- atrial septal defect (ASD)
- patent ductus arteriosus (PDA)
- common atrioventricular canal
genitourinary malformations :

Radiographic features

limb
- asymmetrical reduction anomalies of all extremities : ~ 90%
- synostoses : humero-radial / humero-ulnar, femoro-tibial
- 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
truncal / rib

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