Preferred Label : Wolf-hirschhorn syndrome;
Symbol : WHS;
CISMeF acronym : PRDS; WHS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Pitt syndrome; PRDS; Wittwer syndrome; Pitt-rogers-danks syndrome; Chromosome 4p16.3 deletion syndrome;
Description : Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre-
and postnatal growth deficiency, developmental disability of variable degree, characteristic
craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead,
prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal
folds, short philtrum, distinct mouth with downturned corners, and micrognathia),
and a seizure disorder (Battaglia et al., 2008).;
Inheritance : Isolated cases;
Molecular basis : Due to hemizygous deletion of 4p16.3;
Laboratory abnormalities : Hemizygous deletion at 4p16.3;
Prefixed ID : #194190;
Origin ID : 194190;
UMLS CUI : C1956097;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)