chromosome 9p deletion syndrome (DOID:0060732)
Alliance: disease page
Synonyms: 9p syndrome; Alfi syndrome; monosomy 9p syndrome
Alt IDs: OMIM:158170, ICD10CM:Q93.5, MESH:C538024, ORDO:261112
Definition: A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9.