has material basis in germline mutation in PIK3CA hereditary disease hemifacial myohyperplasia https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia https://www.malacards.org/card/hemifacial_myohyperplasia MEDGEN:339781 Orphanet:141148 HMH OMIM:606773 MESH:C535862 hypertrophy and asymmetry of the facial muscles Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities. MONDO:0011723 icd11.foundation:1338941880 ICD9:744.89 SCTID:699420006 GARD:0010084 UMLS:C1847521 hemifacial myohyperplasia macroglossia overgrowth syndrome