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Oculoauriculovertebral spectrum with radial defects

MedGen UID:: 67392
•Concept ID:: C0220681
•: Congenital Abnormality; Disease or Syndrome

Synonyms:	Goldenhar syndrome with ipsilateral radial defect; Hemifacial microsomia with radial defects; Microsomia hemifacial radial defects; Moeschler Clarren syndrome; Oculoauriculovertebral spectrum with radial defect
SNOMED CT:	Hemifacial microsomia with radial defect syndrome (726722009); Moeschler Clarren syndrome (726722009); Oculoauriculovertebral spectrum with radial defects (726722009)

Monarch Initiative:	MONDO:0007712
OMIM®:	141400
Orphanet:	ORPHA2549

Definition

A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. [from SNOMEDCT_US]

Clinical features

From HPO

Triphalangeal thumb

MedGen UID:: 66029
•Concept ID:: C0241397
•: Congenital Abnormality

A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.

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Complete duplication of thumb phalanx

MedGen UID:: 767638
•Concept ID:: C3554724
•: Finding

A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.

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Conductive hearing impairment

MedGen UID:: 9163
•Concept ID:: C0018777
•: Disease or Syndrome

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

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Microtia

MedGen UID:: 57535
•Concept ID:: C0152423
•: Congenital Abnormality

Underdevelopment of the external ear.

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Atresia of the external auditory canal

MedGen UID:: 78613
•Concept ID:: C0266597
•: Congenital Abnormality

Absence or failure to form of the external auditory canal.

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Short mandibular rami

MedGen UID:: 331097
•Concept ID:: C1841648
•: Finding

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Facial asymmetry

MedGen UID:: 266298
•Concept ID:: C1306710
•: Finding

An abnormal difference between the left and right sides of the face.

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Cleft palate

MedGen UID:: 756015
•Concept ID:: C2981150
•: Congenital Abnormality

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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Orofacial cleft

MedGen UID:: 472000
•Concept ID:: C3266076
•: Congenital Abnormality

The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.

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Non-midline cleft of the upper lip

MedGen UID:: 866673
•Concept ID:: C4021020
•: Congenital Abnormality

Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.

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Hemifacial hypoplasia

MedGen UID:: 868995
•Concept ID:: C4023411
•: Disease or Syndrome

Unilateral underdevelopment of the facial tissues, including muscles and bones.

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Preauricular pit

MedGen UID:: 120587
•Concept ID:: C0266610
•: Congenital Abnormality

Small indentation anterior to the insertion of the ear.

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Preauricular skin tag

MedGen UID:: 395989
•Concept ID:: C1860816
•: Finding

A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).

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Show all Hide all

Abnormality of head or neck
Abnormality of limbs
- Complete duplication of thumb phalanx
- Triphalangeal thumb
Abnormality of the integument
- Preauricular pit
- Preauricular skin tag
Abnormality of the musculoskeletal system
- Short mandibular rami
Ear malformation

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOculoauriculovertebral spectrum with radial defects

Branchial arch or oral-acral syndrome
- Oculoauriculovertebral spectrum with radial defects

Follow this link to review classifications for Oculoauriculovertebral spectrum with radial defects in Orphanet.

Professional guidelines

PubMed

Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia.

Renkema RW, de Vreugt V, Heike CL, Padwa BL, Forrest CR, Dunaway DJ, Wolvius EB, Caron CJJM, Koudstaal MJ
J Craniofac Surg 2023 Sep 1;34(6):1780-1783. Epub 2023 Jun 2 doi: 10.1097/SCS.0000000000009446. PMID: 37264504 Free PMC Article

The etiology, clinical features, and treatment options of hemifacial microsomia.

Luo S, Sun H, Bian Q, Liu Z, Wang X
Oral Dis 2023 Sep;29(6):2449-2462. Epub 2023 Mar 13 doi: 10.1111/odi.14508. PMID: 36648381

Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment.

Chan CH, Hu AC, Jain NS, Dang BN, Liu MT, Bertrand AA, Wilson LF, Lee JC
J Craniofac Surg 2021 Nov-Dec 01;32(8):2771-2773. doi: 10.1097/SCS.0000000000007938. PMID: 34727477

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