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Hemifacial myohyperplasia(HFMH)

MedGen UID:
339781
Concept ID:
C1847521
Congenital Abnormality
Synonyms: HFMH; Hypertrophy and asymmetry of the facial muscles
SNOMED CT: Hemifacial myohyperplasia (699420006)
 
Gene (location): PIK3CA (3q26.32)
 
Monarch Initiative: MONDO:0011723
OMIM®: 606773
Orphanet: ORPHA141148

Definition

Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles (summary by Bayard et al., 2023). [from OMIM]

Clinical features

From HPO
Deviated nasal septum
MedGen UID:
154288
Concept ID:
C0549397
Finding
Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
Hemifacial hypertrophy
MedGen UID:
452987
Concept ID:
C1399354
Disease or Syndrome
The criteria for the hemifacial type of congenital hypertrophy are (1) unilateral enlargement of the viscerocranium bounded superiorly by the frontal bone (not including the eye), inferiorly by the inferior border of the mandible, medially by the midline of the face, and laterally by the ear, the pinna being included within the hypertropic area, and (2) enlargement of all tissues--teeth, bone, and soft tissue--within this area (Rowe, 1962).
Narrow palpebral fissure
MedGen UID:
382506
Concept ID:
C2675021
Finding
Reduction in the vertical distance between the upper and lower eyelids.
Dimple chin
MedGen UID:
1370532
Concept ID:
C4317152
Anatomical Abnormality
A persistent midline depression of the skin over the fat pad of the chin.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemifacial myohyperplasia

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