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Maxillozygomatic hypoplasia

MedGen UID:
338569
Concept ID:
C1848908
Finding
Synonyms: Decreased projection of zygomaticomaxillary bone complex; Decreased size of zygomaticomaxillary bone complex; Deficiency of zygomaticomaxillary bone complex; Hypoplasia of malar bone complex; Hypoplasia of zygomaticomaxillary complex; Underdevelopment of zygomaticomaxillary bone complex
 
HPO: HP:0005439

Definition

Hypoplasia of the maxillozygomatic complex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMaxillozygomatic hypoplasia

Conditions with this feature

Craniofacial microsomia 1
MedGen UID:
501171
Concept ID:
C3495417
Congenital Abnormality
Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.\n\nPeople with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.\n\nAbnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.\n\nMany other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.

Recent clinical studies

Prognosis

Konaş E, Aliyev A, Tunçbilek G
J Craniofac Surg 2015 Jan;26(1):e68-70. doi: 10.1097/SCS.0000000000001239. PMID: 25569423

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