Preferred Label : Ablepharon-macrostomia syndrome;
ICD-11 definition : Ablepharon macrostomia syndrome is characterised by the association of facial (absent
eyelids, eyebrows and eyelashes, low nasal bridge, rudimentary external ears, hypoplastic
and anteverted nostrils, absence of the zygomatic arches, as well as fusion defects
of the mouth resulting in an enlarged, fish-like mouth), genital (ambiguous genitalia),
and cutaneous features (coarse and dry skin, with redundant folds), and delayed language
development.;
Origin ID : 240063776;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Ablepharon macrostomia syndrome is characterised by the association of facial (absent
eyelids, eyebrows and eyelashes, low nasal bridge, rudimentary external ears, hypoplastic
and anteverted nostrils, absence of the zygomatic arches, as well as fusion defects
of the mouth resulting in an enlarged, fish-like mouth), genital (ambiguous genitalia),
and cutaneous features (coarse and dry skin, with redundant folds), and delayed language
development.
