Preferred Label : Myhre syndrome;
Symbol : MYHRS;
CISMeF acronym : MYHRS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Laps syndrome; Growth-mental deficiency syndrome of myhre; Laryngotracheal stenosis, arthropathy, prognathism, and short stature;
Description : Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic
facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis,
as well as typical skeletal anomalies, including short stature, square body shape,
broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria.
Other features, such as congenital heart disease, may also occur. All reported cases
have been sporadic (summary by Bachmann-Gagescu et al., 2011).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the SMAD family member 4 gene (SMAD4, 600993.0015);
Prefixed ID : #139210;
Origin ID : 139210;
UMLS CUI : C0796081;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)