SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/763618001
http://purl.bioontology.org/ontology/SNOMEDCT/763618001
Preferred Name

Wiedemann Steiner syndrome

Definitions
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back and seizures. There is evidence the disease is caused by heterozygous mutation in the MLL gene on chromosome 11q23.
Synonyms
Hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome
Wiedemann Steiner syndrome (disorder)
Type http://www.w3.org/2002/07/owl#Class
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