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
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ICD-10: |
Q87.8 |
UMLs: |
C1857663 |
MeSH: |
C536719 |
MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive [Orphanet] |
Age of onset: |
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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:
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000647) | Sclerocornea | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Occasional [Orphanet] | 38 / 7739 | |||
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0000488) | Retinopathy | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0002092) | Pulmonary hypertension | Occasional [Orphanet] | 109 / 7739 | |||
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(HPO:0001871) | Abnormality of blood and blood-forming tissues | 37 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001525) | Severe failure to thrive | 13 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0001638) | Cardiomyopathy | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Occasional [Orphanet] | 253 / 7739 | |||
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(HPO:0001636) | Tetralogy of Fallot | Occasional [Orphanet] | 104 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0008947) | Infantile muscular hypotonia | 482 / 7739 | ||||
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(HPO:0010547) | Muscle flaccidity | 466 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0011344) | Severe global developmental delay | 46 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | Frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | 191 / 7739 | ||||
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(HPO:0009835) | Aplasia/Hypoplasia of the distal phalanges of the hand | 9 / 7739 | ||||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0009843) | Aplasia/Hypoplasia of the middle phalanges of the hand | 13 / 7739 | ||||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0009777) | Absent thumb | 31 / 7739 | ||||
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(HPO:0009776) | Adactyly | Very frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0001182) | Tapered finger | 93 / 7739 | ||||
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(HPO:0008362) | Aplasia/Hypoplasia of the hallux | 4 / 7739 | ||||
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(HPO:0011305) | Partial absence of toe | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0001831) | Short toe | 52 / 7739 | ||||
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(HPO:0011309) | Tapered toe | 2 / 7739 | ||||
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(HPO:0001770) | Toe syndactyly | 149 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0006494) | Aplasia/Hypoplasia involving bones of the feet | Very frequent [Orphanet] | 69 / 7739 | |||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0002692) | Hypoplastic facial bones | 5 / 7739 | ||||
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0004331) | Decreased skull ossification | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0000239) | Large fontanelles | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000894) | Short clavicles | 30 / 7739 | ||||
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(HPO:0000782) | Abnormality of the scapula | 3 / 7739 | ||||
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(HPO:0000766) | Abnormality of the sternum | Very frequent [Orphanet] | 31 / 7739 | |||
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(HPO:0006628) | Absent sternal ossification | 6 / 7739 | ||||
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(HPO:0002561) | Absent nipple | 12 / 7739 | ||||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Occasional [Orphanet] | 28 / 7739 | |||
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(HPO:0006660) | Aplastic clavicles | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0002139) | Arrhinencephaly | 13 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0001804) | Hypoplastic fingernail | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0008386) | Aplasia/Hypoplasia of the nails | 4 / 7739 | ||||
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(HPO:0002021) | Pyloric stenosis | 51 / 7739 | ||||
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(HPO:0000047) | Hypospadias | 250 / 7739 | ||||
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(HPO:0000054) | Micropenis | Frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0011800) | Midface retrusion | Frequent [Orphanet] | 221 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
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(HPO:0000188) | Short upper lip | 8 / 7739 | ||||
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(HPO:0000216) | Broad secondary alveolar ridge | 3 / 7739 | ||||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0006323) | Premature loss of primary teeth | 18 / 7739 | ||||
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(HPO:0000162) | Glossoptosis | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000322) | Short philtrum | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000233) | Thin vermilion border | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000464) | Abnormality of the neck | 31 / 7739 | ||||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0009738) | Abnormality of the antihelix | Very frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000377) | Abnormality of the pinna | 111 / 7739 | ||||
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(HPO:0009906) | Aplasia/Hypoplasia of the earlobes | Very frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000385) | Small earlobe | 9 / 7739 | ||||
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(HPO:0000958) | Dry skin | Occasional [Orphanet] | 152 / 7739 | |||
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(HPO:0001582) | Redundant skin | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0001789) | Hydrops fetalis | 63 / 7739 | ||||
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(HPO:0001622) | Premature birth | 100 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | rare [HPO:skoehler] | 114 / 7739 | |||
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(HPO:0002120) | Cerebral cortical atrophy | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0001360) | Holoprosencephaly | 29 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001302) | Pachygyria | 60 / 7739 | ||||
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(OMIM) | Abnormal scapula | 1 / 7739 | ||||
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(OMIM) | Aplastic/hypoplastic first metacarpal | 1 / 7739 | ||||
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(OMIM) | Aplastic/hypoplastic first metatarsal | 1 / 7739 | ||||
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(OMIM) | Cystic dental follicles | 1 / 7739 | ||||
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(OMIM) | Enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue | 1 / 7739 | ||||
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(OMIM) | Enlarged fontanels | 1 / 7739 | ||||
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(OMIM) | Flattened acetabula | 1 / 7739 | ||||
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(OMIM) | Frontal lobe atrophy | 2 / 7739 | ||||
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(OMIM) | Hypoplastic ear lobes | 2 / 7739 | ||||
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(OMIM) | Iliac hypoplasia | 1 / 7739 | ||||
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(OMIM) | Labiogingival retraction | 1 / 7739 | ||||
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(OMIM) | Loose nuchal skin | 1 / 7739 | ||||
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(OMIM) | Narrow arched palate | 2 / 7739 | ||||
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(OMIM) | Neuronal loss, diffuse | 1 / 7739 | ||||
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(OMIM) | Papillo-macular atrophic chorioretinopathy (1 report) | 1 / 7739 | ||||
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(OMIM) | Severe developmental delay in survivors | 1 / 7739 | ||||
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(OMIM) | Short tapering fingers | 2 / 7739 | ||||
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(OMIM) | Short, tapering toes | 1 / 7739 | ||||
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(OMIM) | Sparse eyebrows and eyelashes | 4 / 7739 | ||||
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(OMIM) | Vacuolated macrophages | 1 / 7739 | ||||
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(OMIM) | Vacuolated neurons | 1 / 7739 | ||||
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(OMIM) | Weak sucking | 1 / 7739 | ||||
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(OMIM) | Widened suture | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |