obsolete SC phocomelia syndrome

Term ID

DOID:0050536

Synonyms

• Hypomelia Hypotrichosis Facial hemangioma syndrome
• SC PSEUDOTHALIDOMIDE SYNDROME

Definition

A syndrome that is characterized by severe prenatal growth retardation resulting in malformation of the bones in the skull, face and limbs, has_material_basis_in the mutation in the ESCO2 gene. https://www.omim.org/entry/269000

References

Obsolete

true

Secondary ID:

Merged into

Roberts syndrome

Ontology

  ( DOID:0050536 )