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Yunis-Varon syndrome
ORPHA:3472 · Malformation syndrome · Disorder
HPO 表現型（共 90 項）
Very frequent (99-80%)(3)
- Aplasia of distal finger phalanxHP:0009881
- Aplasia of the distal phalanx of the halluxHP:0010102
- Short proximal phalanx of halluxHP:0010107
Frequent (79-30%)(63)
- Abnormal finger morphologyHP:0001167
- Abnormal occipital bone morphologyHP:0012294
- Abnormal parietal bone morphologyHP:0002696
- Abnormal pelvis bone morphologyHP:0040163
- Abnormal pinna morphologyHP:0000377
- Abnormality of dental structureHP:0011061
- Absent sternal ossificationHP:0006628
- Absent thumbHP:0009777
- Agenesis of corpus callosumHP:0001274
- Anteverted naresHP:0000463
- Aplasia of the 1st metacarpalHP:0010035
- Aplasia/hypoplasia of the 1st metatarsalHP:0010067
- Aplasia/Hypoplasia of the claviclesHP:0006710
- Aplasia/Hypoplasia of the nailsHP:0008386
- Aplasia/Hypoplasia of the nipplesHP:0006709
- ArrhinencephalyHP:0002139
- Bilateral microphthalmosHP:0007633
- Broad secondary alveolar ridgeHP:0000216
- CardiomegalyHP:0001640
- CardiomyopathyHP:0001638
- CataractHP:0000518
- Decreased skull ossificationHP:0004331
- DolichocephalyHP:0000268
- Generalized neonatal hypotoniaHP:0008935
- Global developmental delayHP:0001263
- High foreheadHP:0000348
- High, narrow palateHP:0002705
- HypertelorismHP:0000316
- Hypoplasia of the frontal lobesHP:0007333
- HypospadiasHP:0000047
- Low-set earsHP:0000369
- Metatarsus adductusHP:0001840
- MicrognathiaHP:0000347
- MicropenisHP:0000054
- Neuronal loss in central nervous systemHP:0002529
- PachygyriaHP:0001302
- Postnatal growth retardationHP:0008897
- Premature loss of primary teethHP:0006323
- Primary microcephalyHP:0011451
- ProptosisHP:0000520
- Pulmonary arterial hypertensionHP:0002092
- Redundant neck skinHP:0005989
- Rocker bottom footHP:0001838
- SclerocorneaHP:0000647
- Severe failure to thriveHP:0001525
- Short chinHP:0000331
- Short fingerHP:0009381
- Short middle phalanx of fingerHP:0005819
- Short philtrumHP:0000322
- Short statureHP:0004322
- Short toeHP:0001831
- Short upper lipHP:0000188
- Shortening of all distal phalanges of the toesHP:0005793
- Single transverse palmar creaseHP:0000954
- Sparse eyebrowHP:0045075
- Sparse eyelashesHP:0000653
- Sparse scalp hairHP:0002209
- SyndactylyHP:0001159
- Tapered fingerHP:0001182
- Thin vermilion borderHP:0000233
- Upslanted palpebral fissureHP:0000582
- Ventricular septal defectHP:0001629
- Wide cranial suturesHP:0010537
Occasional (29-5%)(23)
- Aplasia/Hypoplasia of the scapulaeHP:0006713
- Atrial septal defectHP:0001631
- Cerebellar hypoplasiaHP:0001321
- Clitoral hypertrophyHP:0008665
- CryptorchidismHP:0000028
- Flared metaphysisHP:0003015
- Gingival recessionHP:0030816
- GlossoptosisHP:0000162
- Hearing impairmentHP:0000365
- Hip dislocationHP:0002827
- HydrocephalusHP:0000238
- Hydrops fetalisHP:0001789
- HypertensionHP:0000822
- Hypoplastic labia majoraHP:0000059
- Increased nuchal translucencyHP:0010880
- MicrophthalmiaHP:0000568
- Narrow nasal baseHP:0012809
- PolyhydramniosHP:0001561
- Pyloric stenosisHP:0002021
- Renal artery stenosisHP:0001920
- Renovascular hypertensionHP:0100817
- Short ribsHP:0000773
- Slender long bones with narrow diaphysesHP:0004993
Very rare (<4-1%)(1)
- Tetralogy of FallotHP:0001636