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Ring chromosome 7 syndrome
ORPHA:1449 · Malformation syndrome · Disorder
HPO 表現型（共 58 項）
Very frequent (99-80%)(29)
- Abnormal posterior cranial fossa morphologyHP:0000932
- Abnormality of the faceHP:0000271
- Bilateral ptosisHP:0001488
- BrachycephalyHP:0000248
- Cerebral cortical atrophyHP:0002120
- Downslanted palpebral fissuresHP:0000494
- EpicanthusHP:0000286
- Flat faceHP:0012368
- Flat foreheadHP:0004425
- Highly arched eyebrowHP:0002553
- HypogonadismHP:0000135
- HypospadiasHP:0000047
- HypotelorismHP:0000601
- Low anterior hairlineHP:0000294
- Malar flatteningHP:0000272
- MicrocephalyHP:0000252
- Motor delayHP:0001270
- Narrow mouthHP:0000160
- Prominent crus of helixHP:0009899
- Prominent nasal bridgeHP:0000426
- Severe global developmental delayHP:0011344
- Severe intrauterine growth retardationHP:0008846
- Short philtrumHP:0000322
- Short statureHP:0004322
- Small earlobeHP:0000385
- Speech articulation difficultiesHP:0009088
- Thin vermilion borderHP:0000233
- Unilateral ptosisHP:0007687
- Wide nasal bridgeHP:0000431
Frequent (79-30%)(6)
- Abnormal skin pigmentationHP:0001000
- Heart murmurHP:0030148
- Narrow narisHP:0009933
- Short noseHP:0003196
- Slender fingerHP:0001238
- VentriculomegalyHP:0002119
Occasional (29-5%)(15)
- Abnormal cerebellum morphologyHP:0001317
- Anteverted naresHP:0000463
- Cafe-au-lait spotHP:0000957
- Cleft palateHP:0000175
- EsotropiaHP:0000565
- Facial hemangiomaHP:0000329
- Genu valgumHP:0002857
- Hydrocele testisHP:0000034
- Hyperpigmented neviHP:0007481
- Lumbar kyphoscoliosisHP:0004619
- Mandibular prognathiaHP:0000303
- MelanomaHP:0002861
- Single transverse palmar creaseHP:0000954
- Small handHP:0200055
- StrabismusHP:0000486
Very rare (<4-1%)(8)
- 3-4 toe syndactylyHP:0009779
- Bifid uvulaHP:0000193
- Clinodactyly of the 5th fingerHP:0004209
- HoloprosencephalyHP:0001360
- Median cleft palateHP:0009099
- PlagiocephalyHP:0001357
- Short 5th fingerHP:0009237
- Situs inversus totalisHP:0001696