Craniofacial Microsomia (CFM)

Categories: Rare diseases

Aliases & Classifications for Craniofacial Microsomia

MalaCards integrated aliases for Craniofacial Microsomia:

Name: Craniofacial Microsomia 52 25 29
Goldenhar Syndrome 25 71
Goldenhar Syndrome with Ipsilateral Radial Defect 71
Asymmetric Hypoplasia of Facial Structures 25
First and Second Pharyngeal Arch Syndromes 25
First and Second Branchial Arch Syndrome 25
Unilateral Intrauterine Facial Necrosis 25
Unilateral Mandibulofacial Dysostosis 25
Oral-Mandibular-Auricular Syndrome 25
Facioauriculovertebral Dysplasia 25
Oculoauriculovertebral Spectrum 25
Auriculobranchiogenic Dysplasia 25
Goldenhar-Gorlin Syndrome 25
Otomandibular Dysostosis 25
Lateral Facial Dysplasia 25
Hemifacial Microsomia 25
Oav Complex 25
Oavs 25
Hfm 25
Cfm 25
Fav 25


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UMLS 71 C0220681 C0265240

Summaries for Craniofacial Microsomia

Genetics Home Reference : 25 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. People 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. Abnormalities 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. Many 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.

MalaCards based summary : Craniofacial Microsomia, also known as goldenhar syndrome, is related to hemifacial microsomia with radial defects and folate malabsorption, hereditary. The drugs Tenofovir and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and eye.

NIH Rare Diseases : 52 Craniofacial microsomia (CFM) includes several conditions characterized by defects that occur when the fetus is forming within the womb of the mother, in structures known as the "first and second brachial arch". These structures will develop to form the neck and the head. The first arches produce the lower jaw, two bones inside the ear, and nerves and muscles for chewing. The second arches give rise to the nerves and muscles of facial expression, one bone in the middle ear, most of the outer ear, and parts of the bone above the larynx (voice box). Microsomia means abnormal smallness of body structures. CFM findings include differences in the size and shape between the right and left sides of the face (facial asymmetry), small chin and jaw, tissue in front of the ear (preauricular or facial tags); ear malformations such as microtia (small ear), anotia (absence of ear); and hearing loss . Other problems may include cleft lip and/or palate, vertebral, renal (kidney), heart, and limb defects. Many 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. These conditions include hemifacial microsomia (when only one side of the face is affected), Goldenhar syndrome (hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids), and others, such as first and second branchial arch syndrome , otomandibular dysostosis, facio-auriculo-vertebral syndrome and lateral facial dysplasia. It is still not been proven whether these diseases are distinct diagnoses or part of the same condition with different degrees of severity. In most cases, CFM is sporadic and the cause is unknown. In other cases, it can be due to a chromosome abnormality or is inherited in an autosomal dominant or recessive pattern. Treatment is age and symptom dependent, addressing each symptom at the appropriate stage of craniofacial growth and development.

Related Diseases for Craniofacial Microsomia

Diseases related to Craniofacial Microsomia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 265)
# Related Disease Score Top Affiliating Genes
1 hemifacial microsomia with radial defects 12.7
2 folate malabsorption, hereditary 12.4
3 vacterl association 11.8
4 klippel-feil syndrome 11.8
5 hemifacial microsomia 11.7
6 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.6
7 microtia-anotia 11.6
8 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.2
9 microtia 10.6
10 sensorineural hearing loss 10.5
11 cleft lip 10.4
12 heart septal defect 10.4
13 cleft lip/palate 10.4
14 scoliosis, isolated 1 10.4
15 idiopathic scoliosis 10.4
16 ear malformation 10.4
17 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
18 branchiootic syndrome 1 10.4
19 ventricular septal defect 10.4
20 overgrowth syndrome 10.4
21 corneal ulcer 10.3
22 macrostomia, isolated 10.3
23 sleep apnea 10.3
24 treacher collins syndrome 1 10.3
25 branchiootorenal syndrome 10.3
26 atrial heart septal defect 10.3
27 neuropathy 10.3
28 chromosomal triplication 10.3
29 sirenomelia 10.3
30 facial cleft 10.3
31 tracheomalacia 10.2
32 neural tube defects 10.2
33 strabismus 10.2
34 scoliosis 10.2
35 synostosis 10.2
36 ankylosis 10.2
37 mechanical strabismus 10.2
38 autosomal recessive disease 10.2
39 megaloblastic anemia 10.2
40 thrombocytopenia 10.2
41 hypospadias 10.2
42 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.2
43 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.2
44 benign teratoma 10.1
45 cystic teratoma 10.1
46 mature teratoma 10.1
47 acroosteolysis 10.1
48 townes-brocks syndrome 1 10.1
49 cat eye syndrome 10.1
50 cri-du-chat syndrome 10.1

Graphical network of the top 20 diseases related to Craniofacial Microsomia:

Diseases related to Craniofacial Microsomia

Symptoms & Phenotypes for Craniofacial Microsomia

Drugs & Therapeutics for Craniofacial Microsomia

Drugs for Craniofacial Microsomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Tenofovir Experimental, Investigational Phase 3 147127-20-6 464205
2 Anti-Infective Agents Phase 3
3 Anti-HIV Agents Phase 3
4 Reverse Transcriptase Inhibitors Phase 3
5 Antiviral Agents Phase 3
6 Anti-Retroviral Agents Phase 3

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Use of Tenofovir Disoproxil Fumarate (TDF) in the Management of Patients With Inactive Chronic Hepatitis B (CHB) Infection Enrolling by invitation NCT02600117 Phase 3 Tenofovir disoproxil fumarate
2 Randomized Controlled Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Facial Soft Tissue Augmentation in Patients With Craniofacial Microsomia. Completed NCT01674439 Phase 2
3 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
4 Accuracy Evaluation of A CAD/CAM Surgical Template for Mandible Distraction Unknown status NCT03270618
5 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
6 Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome. Completed NCT04056858
7 Technical Notes on Novel Technique and Step by Step Construction of Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021
8 The Effect of Bone Marrow Aspirate Concentrate on Bone Regenerate During Rapid Mandibular Distraction Osteogensis Completed NCT03861650
9 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
10 Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology Recruiting NCT04351893
11 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
12 Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia Active, not recruiting NCT03806361
13 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

Search NIH Clinical Center for Craniofacial Microsomia

Genetic Tests for Craniofacial Microsomia

Genetic tests related to Craniofacial Microsomia:

# Genetic test Affiliating Genes
1 Craniofacial Microsomia 29

Anatomical Context for Craniofacial Microsomia

MalaCards organs/tissues related to Craniofacial Microsomia:

Bone, Heart, Eye, Kidney, Skin, Bone Marrow, Tongue

Publications for Craniofacial Microsomia

Articles related to Craniofacial Microsomia:

(show top 50) (show all 585)
# Title Authors PMID Year
Community participation in youth with craniofacial microsomia. 61
32478589 2020
Peters anomaly: A 5-year experience. 61
32107814 2020
Three-dimensional characterization of mandibular asymmetry in craniofacial microsomia. 61
32382927 2020
Airway Obstruction Management With Mandibular Distraction and Matthews Device in Pruzansky III Craniofacial Microsomia. 61
32118661 2020
Child and Caregiver Perspectives Towards Facial Appearance in Children With Microtia With or Without Craniofacial Microsomia Using a Newly Developed Likert Scale. 61
32310885 2020
Ocular and adnexal anomalies in craniofacial microsomia: a systematic review. 61
32217034 2020
Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome. 61
31760545 2020
Dental anomalies in craniofacial microsomia: A systematic review. 61
31608577 2020
Craniofacial malformations and their association with brain development: the importance of a multidisciplinary approach for treatment. 61
31172336 2020
[Goldenhar syndrome: A case report]. 61
31836296 2020
Goldenhar Syndrome with Imperforate Anus: New Association or Coincidence! 61
31302873 2019
Goldenhar Syndrome in a 6-Year-Old Patient: a Case Report and Review of Literature. 61
31875178 2019
Speech, Language, and Communication Skills of Adolescents With Craniofacial Microsomia. 61
31580699 2019
Goldenhar Syndrome: A Report of Two Cases. 61
31807458 2019
Isolated Fat Grafting for Reconstruction of Lower Face Volumetric Asymmetry in Skeletally Immature Patients: A Clinical Outcome Study. 61
31232814 2019
Prenatal diagnosis of pericallosal lipoma: Systematic review. 61
31587959 2019
[Congenital anomalies of the external ear]. 61
31791458 2019
Goldenhar Syndrome in a Young Girl. 61
31659973 2019
Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report. 61
31689014 2019
Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome. 61
31546553 2019
Autologous Fat Graft for Soft Tissue Camouflage in Craniofacial Microsomia. 61
32001966 2019
Dermal-Fat Graft for Facial Contouring in Patients With Craniofacial Microsomia. 61
31205276 2019
What Are the Characteristics of the Upper Airway in Patients With Craniofacial Microsomia? 61
31002786 2019
Introduction to the special issue: "Focus on pediatric nephrology". 61
31630705 2019
Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients. 61
30878275 2019
Ureterocystoplasty (bladder augmentation) in a 16 year-old boy with Goldenhar syndrome. 61
31630716 2019
Methods and Challenges in a Cohort Study of Infants and Toddlers With Craniofacial Microsomia: The Clock Study. 61
30621445 2019
Goldenhar syndrome associated with genital tract abnormality. 61
31466990 2019
Oculo-Auriculo-Vertebral Dysplasia With Craniocervical Instability and Occult Tethered Cord Syndrome. An Addition to the Spectrum? First Case Report and Review of the Literature. 61
31579884 2019
Evaluation of prenatal diabetes mellitus and other risk factors for craniofacial microsomia. 61
30927385 2019
Surgical Correction of Craniofacial Microsomia: Evaluation of Interventions in 565 Patients at Three Major Craniofacial Units. 61
31033829 2019
Repair of type IV laryngotracheoesophageal cleft (LTEC) on ECMO. 61
30783751 2019
Discussion: Surgical Correction of Craniofacial Microsomia: Evaluation of Interventions in 565 Patients at Three Major Craniofacial Units. 61
31033830 2019
Legal Briefs: Was the Adverse Outcome from Goldenhar Syndrome or Hypoxic-Ischemic Events? 61
31261068 2019
Goldenhar Syndrome: A Case Report. 61
31110581 2019
Craniofacial Microsomia. 61
30851752 2019
Cranial Anchored Mandible Distraction Osteogenesis. 61
30676449 2019
Describing the mandible in patients with craniofacial microsomia based on principal component analysis and thin plate spline video analysis. 61
30228004 2019
Psychosocial Functioning of Children in a Craniofacial Support Group. 61
29746154 2019
[Screening for ocular involvement in deaf children]. 61
31565135 2019
Dynamics of Face and Head Movement in Infants with and without Craniofacial Microsomia: An Automatic Approach. 61
30859039 2019
Goldenhar syndrome: surgical management protocol in a reference center. 61
31448792 2019
[Advances in research of synergistic divergence]. 61
30641676 2019
Preferential Associated Malformation in Patients With Anotia and Microtia. 61
30616309 2019
Congenital lateral cleft palate with unilateral craniofacial microsomia and lateral ankyloglossia. 61
30700453 2019
Using principal component analysis to describe the midfacial deformities in patients with craniofacial microsomia. 61
30318324 2018
Is There a Difference in Orbital Volume Between Affected and Unaffected Sides in Patients With Unilateral Craniofacial Microsomia? 61
29859949 2018
Exploring the Medical and Psychosocial Concerns of Adolescents and Young Adults With Craniofacial Microsomia: A Qualitative Study. 61
29634364 2018
In Their Own Words: Caregiver and Patient Perspectives on Stressors, Resources, and Recommendations in Craniofacial Microsomia Care. 61
30334912 2018
Early Mandibular Distraction in Craniofacial Microsomia and Need for Orthognathic Correction at Skeletal Maturity: A Comparative Long-Term Follow-Up Study. 61
30511982 2018

Variations for Craniofacial Microsomia

Expression for Craniofacial Microsomia

Search GEO for disease gene expression data for Craniofacial Microsomia.

Pathways for Craniofacial Microsomia

GO Terms for Craniofacial Microsomia

Sources for Craniofacial Microsomia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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