Macroglossia malady

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Orphanet51 2430 ICD10 via Orphanet28 Q38.2 MESH via Orphanet37 C531735

UMLS via Orphanet66 C0009677 ICD1027 Q38.2

NIH Rare Diseases:⁴⁵ Macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. it usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired. in rare cases, it is an isolated, congenital feature. symptoms associated with macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring; airway obstruction; abnormal growth of the jaw and teeth; ulceration; and/or dying tissue on the tip of the tongue. the tongue may protrude from the mouth. inherited or congenital disorders associated with macroglossia include down syndrome, beckwith-wiedemann syndrome, primary amyloidosis, and congenital hypothyroidism. acquired causes may include trauma, cancer, endocrine disorders, and inflammatory or infectious diseases. isolated, congenital macroglossia can be genetic, inherited in an autosomal dominant manner. treatment depends upon the underlying cause and severity and may range from speech therapy in mild cases, to surgical reduction in more severe cases. last updated: 9/16/2015

MalaCards based summary: Macroglossia, also known as congenital macroglossia, is related to stickler syndrome, type ii and beckwith-wiedemann syndrome, and has symptoms including abnormality of the tongue, macroglossia and macroglossia/tongue protrusion/proeminent/hypertrophic. An important gene associated with Macroglossia is CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C), and among its related pathways are Protein digestion and absorption and Degradation of the extracellular matrix. Affiliated tissues include tongue, lung and liver, and related mouse phenotype hearing/vestibular/ear.

Wikipedia:⁶⁸ Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can... more...

Search GEO for disease gene expression data for Macroglossia.