ADULT syndrome

Term ID

DOID:0050601

Synonyms

• acro-dermato-ungual-lacrimal-tooth syndrome

Definition

A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. https://pubmed.ncbi.nlm.nih.gov/16114047/

References

• GARD:384
• MIM:103285

Ontology

Human Disease   ( DOID:0050601 )