Craniofacial Microsomia (CFM)

Categories: Rare diseases

Aliases & Classifications for Craniofacial Microsomia

MalaCards integrated aliases for Craniofacial Microsomia:

Name: Craniofacial Microsomia 20 43 29
Goldenhar Syndrome 43 70
Goldenhar Syndrome with Ipsilateral Radial Defect 70
Asymmetric Hypoplasia of Facial Structures 43
First and Second Pharyngeal Arch Syndromes 43
First and Second Branchial Arch Syndrome 43
Unilateral Intrauterine Facial Necrosis 43
Unilateral Mandibulofacial Dysostosis 43
Oral-Mandibular-Auricular Syndrome 43
Facioauriculovertebral Dysplasia 43
Oculoauriculovertebral Spectrum 43
Auriculobranchiogenic Dysplasia 43
Goldenhar-Gorlin Syndrome 43
Otomandibular Dysostosis 43
Lateral Facial Dysplasia 43
Hemifacial Microsomia 43
Oav Complex 43
Oavs 43
Hfm 43
Cfm 43
Fav 43


External Ids:

UMLS 70 C0220681 C0265240

Summaries for Craniofacial Microsomia

MedlinePlus Genetics : 43 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 folate malabsorption, hereditary and short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. The drugs Entecavir and Adefovir dipivoxil have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and heart.

GARD : 20 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 267)
# Related Disease Score Top Affiliating Genes
1 folate malabsorption, hereditary 11.6
2 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.5
3 hemifacial microsomia with radial defects 11.5
4 vacterl association 11.2
5 klippel-feil syndrome 11.2
6 hemifacial microsomia 11.2
7 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.0
8 microtia 10.6
9 sensorineural hearing loss 10.4
10 cleft lip 10.3
11 cleft lip/palate 10.3
12 heart septal defect 10.3
13 ear malformation 10.2
14 branchiootic syndrome 1 10.2
15 ventricular septal defect 10.2
16 overgrowth syndrome 10.2
17 corneal ulcer 10.2
18 macrostomia, isolated 10.2
19 sleep apnea 10.2
20 benign teratoma 10.2
21 cystic teratoma 10.2
22 mature teratoma 10.2
23 treacher collins syndrome 1 10.2
24 vater/vacterl association 10.2
25 microtia-anotia 10.2
26 branchiootorenal syndrome 10.2
27 atrial heart septal defect 10.2
28 neuropathy 10.2
29 chromosomal triplication 10.2
30 sirenomelia 10.2
31 facial cleft 10.2
32 neural tube defects 10.1
33 strabismus 10.1
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
35 scoliosis 10.1
36 synostosis 10.1
37 ankylosis 10.1
38 mechanical strabismus 10.1
39 hypospadias 10.1
40 scoliosis, isolated 1 10.1
41 idiopathic scoliosis 10.1
42 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
43 keratitis, hereditary 10.1
44 gestational diabetes 10.1
45 cleft tongue 10.1
46 thrombocytopenia 10.0
47 acroosteolysis 10.0
48 townes-brocks syndrome 1 10.0
49 cat eye syndrome 10.0
50 cri-du-chat syndrome 10.0

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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Entecavir Approved, Investigational Phase 2 142217-69-4 153941
Adefovir dipivoxil Approved, Investigational Phase 2 142340-99-6 60871
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
Telbivudine Approved, Investigational Phase 2 3424-98-4 159269
Tenofovir Experimental, Investigational Phase 2 147127-20-6 464205
Adefovir Investigational Phase 2 106941-25-7
7 Antiviral Agents Phase 2

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 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
2 A Phase 2, Open-label Study to Evaluate the Safety and Efficacy of Switching to Tenofovir Alafenamide (TAF) From Tenofovir Disoproxil Fumarate (TDF) and/or Other Oral Antiviral Treatment (OAV) in Virologically Suppressed Chronic Hepatitis B Subjects With Renal and/or Hepatic Impairment Completed NCT03180619 Phase 2 TAF
3 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Evaluate the Safety, Tolerability and Antiviral Activity of GS-9688 in Virally-Suppressed Adult Subjects With Chronic Hepatitis B Completed NCT03491553 Phase 2 Selgantolimod;Placebo;Hepatitis B virus (HBV) OAV Therapy
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
5 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
6 The Effect of Bone Marrow Aspirate Concentrate on Bone Regenerate During Rapid Mandibular Distraction Osteogensis Completed NCT03861650
7 Technical Notes on Novel Technique and Step by Step Construction of Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021
8 Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome. Completed NCT04056858
9 Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology Recruiting NCT04351893
10 Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia Active, not recruiting NCT03806361

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:

Eye, Tongue, Heart, Myeloid, Bone Marrow, Bone, Skin

Publications for Craniofacial Microsomia

Articles related to Craniofacial Microsomia:

(show top 50) (show all 622)
# Title Authors PMID Year
[Obstructive sleep apnea in microtia children with maxillofacial dysostosis]. 61
33794641 2021
Bilateral Epibulbar Dermolipomas in a Patient With Goldenhar Syndrome. 61
33705079 2021
Caregiver Perspectives on School Participation Among Students With Craniofacial Microsomia. 61
33657352 2021
Early Fat Grafting for Augmentation in Craniofacial Microsomia. 61
33654032 2021
Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study. 61
33752938 2021
Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis. 61
33615373 2021
Quantitative description of masseter muscle involvement in craniofacial microsomia. 61
33612317 2021
Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia. 61
33201057 2021
Berry-Treacher Collins Syndrome With Congenital Bell's Palsy and Unilateral Anotia: Tongue-Tie Release Under General Anesthesia. 61
33717757 2021
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. 61
33475861 2021
Posterior semi-circular canal electrode misplacement in Goldenhar's syndrome. 61
32762309 2021
Overgeneralisation effect in trait inferencing about a child with craniofacial microsomia by medical students and child's relatives. 61
33548165 2021
Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia. 61
32783465 2021
Genomic imbalances in craniofacial microsomia. 61
33215817 2020
Cognitive, Motor, and Language Development of Preschool Children With Craniofacial Microsomia. 61
33322943 2020
Three-dimensional characterization of mandibular asymmetry in craniofacial microsomia. 61
32382927 2020
Auricular reconstruction with modified expanded two-flap method in Goldenhar Syndrome: 7-Year experiences. 61
33022554 2020
Distribution, side involvement, phenotype and associated anomalies of Korean patients with craniofacial clefts from single university hospitalbased data obtained during 1998-2018. 61
33144527 2020
Three-Dimensional Planning of the Mandibular Margin in Hemifacial Microsomia Using a Printed Patient-Specific Implant. 61
33136875 2020
Bilateral retinal detachment in Goldenhar syndrome. 61
33120701 2020
Three-Dimensional-Printed Temporal Mandibular Joint for Use in Mandibular Distraction for Patients With Craniofacial Microsomia. 61
33136869 2020
European Guideline Craniofacial Microsomia. 61
32804824 2020
The Need for a Guideline to Impact Patients Outcome in Craniofacial Microsomia. 61
32649552 2020
Microtia and craniofacial microsomia: Content analysis of facebook groups. 61
32838996 2020
The Management of Craniofacial Microsomia in a Craniofacial Center. 61
33136836 2020
Epidemiological Research of Microtia Combined With Congenital Heart Disease. 61
33252535 2020
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3. 61
32639022 2020
MYT1 role in the microtia-craniofacial microsomia spectrum. 61
32871052 2020
Cost-Effectiveness Analysis, Psychosocial, and Utility Outcomes of Early Mandibular Distraction in Craniofacial Microsomia. 61
32604313 2020
Dental and maxillofacial features of condylo-mandibular dysplasia: A case series of 21 patients. 61
32773219 2020
Three-Dimensional Planning of the Mandibular Margin in Hemifacial Microsomia Using a Printed Patient-Specific Implant. 61
33074974 2020
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. 61
32738032 2020
Goldenhar syndrome: the importance of an ophthalmological approach. 61
33367184 2020
Scoliosis in Goldenhar syndrome with curve reversal during brace treatment: a case report. 61
33066766 2020
Limbal dermoid in Goldenhar syndrome associated with bilateral keratoconus. 61
32883533 2020
Poly(ε-Caprolactone) Resorbable Auxetic Designed Knitted Scaffolds for Craniofacial Skeletal Muscle Regeneration. 61
33114301 2020
Ocular and adnexal anomalies in craniofacial microsomia: a systematic review. 61
32217034 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
Three-Dimensional--Printed Temporal Mandibular Joint for Use in Mandibular Distraction for Patients With Craniofacial Microsomia. 61
32890165 2020
Simulation Surgery Using 3D 3-layer Models for Congenital Anomaly. 61
32983813 2020
Bilateral Epibulbar Dermolipomas in a Patient With Goldenhar Syndrome. 61
32833827 2020
Community participation in youth with craniofacial microsomia. 61
32478589 2020
Airway Obstruction Management With Mandibular Distraction and Matthews Device in Pruzansky III Craniofacial Microsomia. 61
32118661 2020
Peters anomaly: A 5-year experience. 61
32107814 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 in a 6-Year-Old Patient: a Case Report and Review of Literature. 61
31875178 2019
Goldenhar Syndrome with Imperforate Anus: New Association or Coincidence! 61
31302873 2019

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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
Loading form....