ablepharon macrostomia syndrome

Term ID

DOID:0060550

Synonyms

• poikiloderma with neutropenia, Clericuzio type

Definition

A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (3)

References

• GARD:3
• MESH:C535557
• MIM:200110
• ORDO:920
• SNOMEDCT_US_2023_03_01:718575002
• UMLS_CUI:C1860224

Ontology

Human Disease   ( DOID:0060550 )