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Acrocraniofacial dysostosis
ORPHA:949 · Malformation syndrome · Disorder
HPO 表現型（共 44 項）
Very frequent (99-80%)(24)
- Abnormal fingernail morphologyHP:0001231
- Abnormal pinna morphologyHP:0000377
- Abnormal toenail morphologyHP:0008388
- Abnormal vertebral body morphologyHP:0003312
- Anteverted naresHP:0000463
- Broad thumbHP:0011304
- Cleft palateHP:0000175
- Downslanted palpebral fissuresHP:0000494
- Flared iliac wingHP:0002869
- MicrognathiaHP:0000347
- Partial duplication of the distal phalanx of the halluxHP:0010097
- Posteriorly rotated earsHP:0000358
- Preauricular pitHP:0004467
- Prominent nasal bridgeHP:0000426
- ProptosisHP:0000520
- PtosisHP:0000508
- Short 1st metacarpalHP:0010034
- Short distal phalanx of fingerHP:0009882
- Short philtrumHP:0000322
- Short statureHP:0004322
- Tapered fingerHP:0001182
- TelecanthusHP:0000506
- Triphalangeal thumbHP:0001199
- TurricephalyHP:0000262
Frequent (79-30%)(20)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal hip bone morphologyHP:0003272
- Abnormal incus morphologyHP:0011453
- Abnormal malleus morphologyHP:0011454
- Abnormality of the middle ear ossiclesHP:0004452
- Advanced eruption of teethHP:0006288
- Choanal atresiaHP:0000453
- Conductive hearing impairmentHP:0000405
- Coxa valgaHP:0002673
- CraniosynostosisHP:0001363
- Genu valgumHP:0002857
- HypertelorismHP:0000316
- Lacrimation abnormalityHP:0000632
- MicrocephalyHP:0000252
- MyopiaHP:0000545
- Pectus excavatumHP:0000767
- Sensorineural hearing impairmentHP:0000407
- Sloping foreheadHP:0000340
- Spina bifida occultaHP:0003298
- Ulnar deviation of fingerHP:0009465