Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
On this page:
Clinical presentation
-
general
postnatal growth and developmental delay
failure to thrive
thrombocytopenia
-
craniofacial
silvery blonde and sparse scalp hair
prominent eyes (exophthalmos) due to the shallowness of the orbits
wide nasal bridge/hypoplastic nasal alae
midfacial cleft
bilateral cleft lip/palate
prominent premaxilla
delayed eruption of permanent teeth
dysplastic ears, including hypoplastic lobes
brain malformations
-
skeletal
asymmetrical limb reduction
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
clinodactyly of index finger
-
cranial
-
facial
-
truncal/rib
Unable to process the form. Check for errors and try again.