Yunis-Varon syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA
YVS
Cleidocranial dysplasia - micrognathia - absent thumbs
Number of Symptoms 137
OrphanetNr: 3472
OMIM Id: 216340
ICD-10: Q87.8
UMLs: C1857663
MeSH: C536719
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Cleidocranial dysplasia and isolated cranial ossification defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
(HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
3
(HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
4
(HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
5
(HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
6
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
7
(HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
8
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
9
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
10
(HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
11
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
12
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
13
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
14
(HPO:0001525) Severe failure to thrive 13 / 7739
15
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
16
(HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
17
(HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
18
(HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
19
(HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
20
(HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
21
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
22
(HPO:0010547) Muscle flaccidity 466 / 7739
23
(HPO:0001324) Muscle weakness 859 / 7739
24
(HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
25
(HPO:0011344) Severe global developmental delay 46 / 7739
26
(HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
27
(HPO:0001561) Polyhydramnios 191 / 7739
28
(HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
29
(HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
30
(HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
31
(HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
32
(HPO:0009777) Absent thumb 31 / 7739
33
(HPO:0009776) Adactyly Very frequent [Orphanet] 11 / 7739
34
(HPO:0001182) Tapered finger 93 / 7739
35
(HPO:0008362) Aplasia/Hypoplasia of the hallux 4 / 7739
36
(HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
37
(HPO:0001831) Short toe 52 / 7739
38
(HPO:0011309) Tapered toe 2 / 7739
39
(HPO:0001770) Toe syndactyly 149 / 7739
40
(HPO:0001159) Syndactyly 140 / 7739
41
(HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
42
(HPO:0002827) Hip dislocation 94 / 7739
43
(HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
44
(HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
45
(HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
46
(HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
47
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
48
(HPO:0000347) Micrognathia 426 / 7739
49
(HPO:0002692) Hypoplastic facial bones 5 / 7739
50
(HPO:0000268) Dolichocephaly 144 / 7739
51
(HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
52
(HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
53
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
54
(HPO:0000894) Short clavicles 30 / 7739
55
(HPO:0000782) Abnormality of the scapula 3 / 7739
56
(HPO:0000766) Abnormality of the sternum Very frequent [Orphanet] 31 / 7739
57
(HPO:0006628) Absent sternal ossification 6 / 7739
58
(HPO:0002561) Absent nipple 12 / 7739
59
(HPO:0006709) Aplasia/Hypoplasia of the nipples Occasional [Orphanet] 28 / 7739
60
(HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
61
(HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
62
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
63
(HPO:0002139) Arrhinencephaly 13 / 7739
64
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
65
(HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
66
(HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
67
(HPO:0000653) Sparse eyelashes 58 / 7739
68
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
69
(HPO:0000535) Sparse and thin eyebrow 76 / 7739
70
(HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
71
(HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
72
(HPO:0002209) Sparse scalp hair 59 / 7739
73
(HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
74
(HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
75
(HPO:0008386) Aplasia/Hypoplasia of the nails 4 / 7739
76
(HPO:0002021) Pyloric stenosis 51 / 7739
77
(HPO:0000047) Hypospadias 250 / 7739
78
(HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
79
(HPO:0000028) Cryptorchidism 347 / 7739
80
(HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
81
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
82
(HPO:0000188) Short upper lip 8 / 7739
83
(HPO:0000216) Broad secondary alveolar ridge 3 / 7739
84
(HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
85
(HPO:0006323) Premature loss of primary teeth 18 / 7739
86
(HPO:0000162) Glossoptosis Very frequent [Orphanet] 26 / 7739
87
(HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
88
(HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
89
(HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
90
(HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
91
(HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
92
(HPO:0000464) Abnormality of the neck 31 / 7739
93
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
94
(HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
95
(HPO:0000377) Abnormality of the pinna 111 / 7739
96
(HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
97
(HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
98
(HPO:0000369) Low-set ears 372 / 7739
99
(HPO:0000385) Small earlobe 9 / 7739
100
(HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
101
(HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
102
(HPO:0000365) Hearing impairment 539 / 7739
103
(HPO:0001789) Hydrops fetalis 63 / 7739
104
(HPO:0001622) Premature birth 100 / 7739
105
(HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
106
(HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
107
(HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
108
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
109
(HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
110
(HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
111
(HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
112
(HPO:0001360) Holoprosencephaly 29 / 7739
113
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
114
(HPO:0001302) Pachygyria 60 / 7739
115
(OMIM) Abnormal scapula 1 / 7739
116
(OMIM) Aplastic/hypoplastic first metacarpal 1 / 7739
117
(OMIM) Aplastic/hypoplastic first metatarsal 1 / 7739
118
(OMIM) Cystic dental follicles 1 / 7739
119
(OMIM) Enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue 1 / 7739
120
(OMIM) Enlarged fontanels 1 / 7739
121
(OMIM) Flattened acetabula 1 / 7739
122
(OMIM) Frontal lobe atrophy 2 / 7739
123
(OMIM) Hypoplastic ear lobes 2 / 7739
124
(OMIM) Iliac hypoplasia 1 / 7739
125
(OMIM) Labiogingival retraction 1 / 7739
126
(OMIM) Loose nuchal skin 1 / 7739
127
(OMIM) Narrow arched palate 2 / 7739
128
(OMIM) Neuronal loss, diffuse 1 / 7739
129
(OMIM) Papillo-macular atrophic chorioretinopathy (1 report) 1 / 7739
130
(OMIM) Severe developmental delay in survivors 1 / 7739
131
(OMIM) Short tapering fingers 2 / 7739
132
(OMIM) Short, tapering toes 1 / 7739
133
(OMIM) Sparse eyebrows and eyelashes 4 / 7739
134
(OMIM) Vacuolated macrophages 1 / 7739
135
(OMIM) Vacuolated neurons 1 / 7739
136
(OMIM) Weak sucking 1 / 7739
137
(OMIM) Widened suture 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is ...
Clinical Description OMIM Yunis and Varon (1980) described 5 children in 3 families with cleidocranial dysplasia (absent clavicles, macrocrania, diastasis of sutures), micrognathia, absent thumbs and distal phalanges of fingers, hypoplasia of proximal phalanx and absence of distal phalanx of the ...
Molecular genetics OMIM In 5 patients from 3 unrelated families with Yunis-Varon syndrome, Campeau et al. (2013) identified homozygous or compound heterozygous mutations in the FIG4 gene (609390.0009-609390.0012). The families had previously been reported by Garrett et al. (1990), Dworzak et ...