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Oculoauriculovertebral spectrum with radial defects

General Information (adopted from Orphanet):

Synonyms, Signs:	GOLDENHAR SYNDROME WITH IPSILATERAL RADIAL DEFECT OCULOAURICULOVERTEBRAL SPECTRUM WITH RADIAL DEFECT OAVS WITH RADIAL DEFECT Hemifacial microsomia - radial defects Moeschler-Clarren syndrome
Number of Symptoms	46
OrphanetNr:	2549
OMIM Id:	141400
ICD-10:	Q75.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant inheritance [Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases:

Branchial arch or oral-acral syndrome
-Rare developmental defect during embryogenesis
Dysostosis with predominant craniofacial involvement
-Rare bone disease
-Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
-Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0008678)	Renal hypoplasia/aplasia	Frequent [Orphanet]	127 / 7739
2	(HPO:0000078)	Abnormality of the genital system	Occasional [Orphanet]	33 / 7739
3	(HPO:0000072)	Hydroureter	Frequent [Orphanet]	146 / 7739
4	(HPO:0000202)	Oral cleft	Frequent [Orphanet]	120 / 7739
5	(HPO:0000175)	Cleft palate		349 / 7739
6	(HPO:0000308)	Microretrognathia	Very frequent [Orphanet]	78 / 7739
7	(HPO:0000174)	Abnormality of the palate	Occasional [Orphanet]	298 / 7739
8	(HPO:0011331)	Hemifacial atrophy	Very frequent [Orphanet]	79 / 7739
9	(HPO:0100335)	Non-midline cleft lip		12 / 7739
10	(HPO:0003778)	Short mandibular rami		7 / 7739
11	(HPO:0000625)	Cleft eyelid	Occasional [Orphanet]	31 / 7739
12	(HPO:0000154)	Wide mouth	Occasional [Orphanet]	137 / 7739
13	(HPO:0009796)	Branchial cyst	Frequent [Orphanet]	32 / 7739
14	(HPO:0000204)	Cleft upper lip	Occasional [Orphanet]	193 / 7739
15	(HPO:0000324)	Facial asymmetry		57 / 7739
16	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Occasional [Orphanet]	142 / 7739
17	(HPO:0011390)	Morphological abnormality of the inner ear	Very frequent [Orphanet]	21 / 7739
18	(HPO:0000405)	Conductive hearing impairment	Occasional [Orphanet]	164 / 7739
19	(HPO:0000413)	Atresia of the external auditory canal		32 / 7739
20	(HPO:0000372)	Abnormality of the auditory canal	Frequent [Orphanet]	49 / 7739
21	(HPO:0000384)	Preauricular skin tag	Frequent [Orphanet]	62 / 7739
22	(HPO:0000407)	Sensorineural hearing impairment	Frequent [Orphanet]	524 / 7739
23	(HPO:0004467)	Preauricular pit		39 / 7739
24	(HPO:0008772)	Aplasia/Hypoplasia of the external ear	Very frequent [Orphanet]	67 / 7739
25	(HPO:0008551)	Microtia		98 / 7739
26	(HPO:0004452)	Abnormality of the middle ear ossicles	Frequent [Orphanet]	26 / 7739
27	(HPO:0009800)	Maternal diabetes	Occasional [Orphanet]	14 / 7739
28	(HPO:0001177)	Preaxial hand polydactyly	Occasional [Orphanet]	59 / 7739
29	(HPO:0009943)	Complete duplication of thumb phalanx		8 / 7739
30	(HPO:0003422)	Vertebral segmentation defect	Frequent [Orphanet]	95 / 7739
31	(HPO:0002818)	Abnormality of the radius	Very frequent [Orphanet]	96 / 7739
32	(HPO:0009601)	Aplasia/Hypoplasia of the thumb	Very frequent [Orphanet]	80 / 7739
33	(HPO:0001545)	Anteriorly placed anus	Occasional [Orphanet]	55 / 7739
34	(HPO:0004322)	Short stature	Frequent [Orphanet]	1232 / 7739
35	(HPO:0200040)	Epidermoid cyst	Frequent [Orphanet]	35 / 7739
36	(HPO:0030680)	Abnormality of cardiovascular system morphology	Very frequent [Orphanet]	355 / 7739
37	(HPO:0006695)	Atrioventricular canal defect	Frequent [Orphanet]	27 / 7739
38	(HPO:0006703)	Aplasia/Hypoplasia of the lungs	Occasional [Orphanet]	79 / 7739
39	(HPO:0012758)	Neurodevelopmental delay	Frequent [Orphanet]	949 / 7739
40	(OMIM)	Multiple preauricular ear tags and pits		1 / 7739
41	(OMIM)	Hemifacial microsomia		1 / 7739
42	(OMIM)	Thumb duplication		1 / 7739
43	(OMIM)	Skin tags at mandibular angle		1 / 7739
44	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
45	(OMIM)	Radial limb defects		1 / 7739
46	(HPO:0001199)	Triphalangeal thumb	Occasional [Orphanet]	56 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Hemifacial microsomia with radial defects may be part of the spectrum of Goldenhar syndrome (164210), which is also referred to as oculoauriculovertebral spectrum (OAVS).

Hodes et al. (1981) described a patient with many clinical features of ... Hemifacial microsomia with radial defects may be part of the spectrum of Goldenhar syndrome (164210), which is also referred to as oculoauriculovertebral spectrum (OAVS). Hodes et al. (1981) described a patient with many clinical features of Goldenhar syndrome and ipsilateral radial defect. She had plagiocephaly, abnormalities of the left ear, facial asymmetry, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, patent ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery. She lacked dermoids of the eye and eyelid colobomata. Fibroblasts from the unaffected right arm showed trisomy 7 mosaicism, whereas those from the affected left arm showed a normal karyotype. Of note, the mother took birth control pills and antihistamines during the first trimester of pregnancy. Moeschler and Clarren (1982) described a young girl with oral cleft, multiple preauricular ear tags and pits, and skin tags along the mandibular angle, all on the right side. The right ramus of the mandible was extremely shortened. She had severe conductive hearing loss on the left and mild loss on the right as well as triphalangeal thumbs with duplication of the right thumb. The mother had a similar pattern of malformations: left hemifacial microsomia with marked microtia and atresia of the external auditory canal, very short left mandible with resultant facial asymmetry, profound hearing loss on the left with moderate loss on the right, and bilaterally duplicated triphalangeal thumbs, which were corrected in childhood. Moeschler and Clarren (1982) also reported 2 sporadic cases; in 1 case, the father was 47 years old. No renal or anal abnormalities were present. Van Bever et al. (1992) reported 8 unrelated Brazilian patients with the oculoauriculovertebral complex and other anomalies. Three of the patients had accompanying radial ray anomalies, including triphalangeal thumb, radial deviation of the hand, hypoplasia of the bones of the arm and hand, and terminal hemimelia below the elbow. All cases had radial ray involvement ipsilateral to the facial anomalies. Zelante et al. (1997) reported an infant with facial asymmetry, left mandible and malar hypoplasia, short left upper limb, and hypoplasia of the ipsilateral scapula. A left radial ray deficiency, with short forearm and absence of the radius and thumb was associated with a clubbed and radially deviated hand and absence of some of the phalanges. The child had multiple cardiac malformations and died at age 45 days. Zelante et al. (1997) noted that this patient would fit into the category of patients with so-called 'expanded' Goldenhar complex. Vendramini et al. (2007) reported 14 unrelated Brazilian patients with sporadic OAVS with radial ray defects. The most common anomalies observed were facial asymmetry, mandible hypoplasia, cleft lip and/or palate, external, middle, and inner ear malformations, hearing loss, and vertebral defects. Radial anomalies included hypoplasia of the thumb and radius; 6 (42.8%) patients had bilateral radial ray involvement. Inner ear involvement was frequently observed (78.6% of cases), which is more common than in Goldenhar syndrome. In addition, patients with radial ray defects tended to have sensorineural hearing loss, low weight, and short stature. Vendramini et al. (2007) noted that, since extreme phenotypic variability is a main characteristic of OAVS and developmental anomalies are not restricted to facial structures, OAVS with radial ray anomalies may represent a subtype of OAVS. The authors emphasized that exclusion of Townes-Brocks syndrome (TBS; 107480) and Okihiro syndrome (DRRS; 607323) should be performed in this subset of patients.

Symptoms & Signs

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