ORPHA:3472
Yunis-Varon syndrome
Synonyms: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, multiple congenital malformation syndrome, characterized by cleidocranial dysplasia (wide fontanelles, calvaria dysostosis, absent or hypoplastic clavicles), absent thumbs and halluces, hypoplastic distal and medial phalanges of fingers, pelvic dysplasia with hip dislocations. Dysmorphic features include sparse scalp hair, protruding eyes, low-set ears, anteverted nares, midfacial hypoplasia, tented upper lip, high arched palate, and micrognathia. Brain malformations are frequently associated. From birth, affected individuals tend to be significantly hypotonic and present with global developmental delay, and respiratory, feeding and swallowing difficulties.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Yunis-Varon syndrome | Cleidocranial dysplasia-micrognathia-absent thumbs syndrome |
| fr | Syndrome de Yunis-Varon | |
| de | Yunis-Varon-Syndrom | Kleidokraniale Dysplasie mit Mikrognathismus und fehlenden Daumen |
| es | Síndrome de Yunis-Varon | Displasia cleidocraneal-micrognatia-pulgares ausentes |
| it | Sindrome di Yunis-Varon | Displasia cleidocranica - micrognatia - agenesia dei pollici |
| nl | Syndroom van Yunis-Varon | Cleidocraniale dysplasie - micrognathie - afwezige duimen-syndroom |
| pt | Síndrome Yunis-Varon | Síndrome de displasia cleido-craniana-micrognatia-ausência de polegares |
| pl | Zespół Yunisa i Varona | Dysplazja obojczykowo-czaszkowa - małożuchwie - brak kciuków |
| cs | Yunisův-Varonův syndrom | Syndrom zahrnující kleidokraniální dysplázii, mikrognatii a absenci palců na rukou · Yunis-Varonův syndrom |
| uk | Синдром Юніса-Варона | Синдром клідокраніальної дисплазії-мікрогнатії- відсутності великих пальців |
| zh | Yunis-Varon 综合征 | 锁骨颅骨发育不良-小颌-拇指缺如综合征 |
| tr | Yunis-Varon sendromu | Kleidokraniyal displazi-mikrognati-başparmak yokluğu sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 216340 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.23 | E | specific | validated |
| MONDO | 0008995 | E | validated | |
| MeSH | C536719 | E | validated | |
| UMLS | C1857663 | E | validated | |
| GARD | 331 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93451Cleidocranial dysplasia and isolated cranial ossification defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FIG4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16873 | ENSG00000112367 | 609390 | 6q21 | FIG4 phosphoinositide 5-phosphatase | 23623387[PMID] |
| VAC14 | Disease-causing germline mutation(s) in | Assessed | HGNC:25507 | ENSG00000103043 | 604632 | 16q22.1-q22.2 | VAC14 component of PIKFYVE complex | 28635952[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 23623387[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
90 annotations · validated 2017-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009881 | Aplasia of the distal phalanges of the hand | |
| HP:0010102 | Aplasia of the distal phalanx of the hallux | |
| HP:0010107 | Short proximal phalanx of hallux | |
| Frequent (79-30%) | ||
| HP:0002696 | Abnormal parietal bone morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0011061 | Abnormality of dental structure | |
| HP:0001167 | Abnormality of finger | |
| HP:0012294 | Abnormality of the occipital bone | |
| HP:0006628 | Absent sternal ossification | |
| HP:0009777 | Absent thumb | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000463 | Anteverted nares | |
| HP:0010035 | Aplasia of the 1st metacarpal | |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | |
| HP:0008386 | Aplasia/Hypoplasia of the nails | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0010067 | Aplasia/hypoplasia of the 1st metatarsal | |
| HP:0002139 | Arrhinencephaly | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0000216 | Broad secondary alveolar ridge | |
| HP:0001640 | Cardiomegaly | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000518 | Cataract | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000268 | Dolichocephaly | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0007333 | Hypoplasia of the frontal lobes | |
| HP:0000047 | Hypospadias | |
| HP:0000369 | Low-set ears | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0001302 | Pachygyria | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0011451 | Primary microcephaly | |
| HP:0000520 | Proptosis | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0005989 | Redundant neck skin | |
| HP:0001838 | Rocker bottom foot | |
| HP:0000647 | Sclerocornea | |
| HP:0001525 | Severe failure to thrive | |
| HP:0000331 | Short chin | |
| HP:0009381 | Short finger | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0000188 | Short upper lip | |
| HP:0005793 | Shortening of all distal phalanges of the toes | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001159 | Syndactyly | |
| HP:0001182 | Tapered finger | |
| HP:0000233 | Thin vermilion border | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0010537 | Wide cranial sutures | |
| Occasional (29-5%) | ||
| HP:0006713 | Aplasia/Hypoplasia of the scapulae | |
| HP:0001631 | Atrial septal defect | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0003015 | Flared metaphysis | |
| HP:0030816 | Gingival recession | |
| HP:0000162 | Glossoptosis | |
| HP:0000365 | Hearing impairment | |
| HP:0002827 | Hip dislocation | |
| HP:0000238 | Hydrocephalus | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000822 | Hypertension | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0000568 | Microphthalmia | |
| HP:0012809 | Narrow nasal base | |
| HP:0001561 | Polyhydramnios | |
| HP:0002021 | Pyloric stenosis | |
| HP:0001920 | Renal artery stenosis | |
| HP:0100817 | Renovascular hypertension | |
| HP:0000773 | Short ribs | |
| HP:0004993 | Slender long bones with narrow diaphyses | |
| Very rare (<4-1%) | ||
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 7395825[PMID]_2918527[PMID]_2319578[PMID]_1533447[PMID]_8411078[PMID]_18203163[PMID]_22044576[PMID]_20932945[PMID]_24610892[PMID]_24658994[PMID]_28635952[PMID]_27292112[PMID]_23623387[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3472
- This record as JSON: /data/d/3472.json