Roberts-SC phocomelia syndrome
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
MONDO:0015335
obsolete Mendelian syndromes with cleft lip/palate (obsolete MONDO:0015335)
excluded_subClassOf
MONDO:0017432
obsolete syndrome with limb reduction defects (obsolete MONDO:0017432)
excluded_subClassOf
MONDO:0018455
obsolete dysostosis of genetic origin with limb anomaly as a major feature (obsolete MONDO:0018455)
excluded_subClassOf
MONDO:0020232
obsolete musculoskeletal disease with cataract (obsolete MONDO:0020232)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
Appelt-Gerken-Lenz syndrome
exact
ESCO2 spectrum disorder
exact
RBS
exact
Roberts syndrome
exact
Roberts syndrome/SC phocomelia
exact
Roberts tetraphocomelia syndrome
exact
Roberts-SC phocomelia syndrome
exact
SC phocomelia
narrow
SC phocomelia syndrome
exact
SC phocomelia syndrome (mild variant of Roberts syndrome)
narrow
SC pseudothalidomide syndrome
narrow
hypomelia hypotrichosis facial hemangioma syndrome
exact
long bone deficiencies associated with cleft lip-palate
exact
phocomelia-pseudothalidomide syndrome
exact
pseudothalidomide syndrome
exact
tetraphocomelia-cleft palate syndrome
exact