Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
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Clinical presentation
- general
- intrauterine growth restriction
- postnatal growth retardation
- 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
- congenital cardiac anomalies
- genitourinary malformations
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
- facial
- truncal/rib