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Branchioskeletogenital syndrome
ORPHA:1299 · Malformation syndrome · Disorder
HPO 表現型（共 55 項）
Very frequent (99-80%)(37)
- Abnormal dentin morphologyHP:0010299
- Abnormal midface morphologyHP:0000309
- Abnormal sella turcica morphologyHP:0002679
- Abnormality of the dentitionHP:0000164
- Abnormality of the vertebral spinous processesHP:0008516
- Advanced pneumatization of the mastoid processHP:0010724
- Attached earlobeHP:0009907
- Bifid uvulaHP:0000193
- BlepharochalasisHP:0010749
- BrachycephalyHP:0000248
- Broad nasal tipHP:0000455
- Carious teethHP:0000670
- Depressed nasal bridgeHP:0005280
- Downturned corners of mouthHP:0002714
- Flat faceHP:0012368
- High foreheadHP:0000348
- Highly arched eyebrowHP:0002553
- HypertelorismHP:0000316
- Hypoplasia of the maxillaHP:0000327
- Large earlobeHP:0009748
- Mandibular prognathiaHP:0000303
- MicrocephalyHP:0000252
- MicropenisHP:0000054
- Moderate intellectual disabilityHP:0002342
- Pectus excavatumHP:0000767
- Penoscrotal hypospadiasHP:0000808
- Periorbital wrinklesHP:0000607
- Pointed chinHP:0000307
- ProptosisHP:0000520
- Rootless teethHP:0011072
- Short neckHP:0000470
- StrabismusHP:0000486
- Submucous cleft hard palateHP:0000176
- SynophrysHP:0000664
- TelecanthusHP:0000506
- Thickened calvariaHP:0002684
- Unilateral cleft palateHP:0100334
Frequent (79-30%)(8)
- Abnormality of the cervical spineHP:0003319
- CraniosynostosisHP:0001363
- Downslanted palpebral fissuresHP:0000494
- Mixed hearing impairmentHP:0000410
- Premature loss of teethHP:0006480
- Short philtrumHP:0000322
- Thin vermilion borderHP:0000233
- Thoracolumbar kyphoscoliosisHP:0003423
Occasional (29-5%)(3)
- Eyelid colobomaHP:0000625
- SeizureHP:0001250
- Ureteral stenosisHP:0000071
Very rare (<4-1%)(7)
- Absent external genitaliaHP:0000042
- Absent nippleHP:0002561
- Amelia involving the lower limbsHP:0009818
- Anteriorly placed anusHP:0001545
- Bladder exstrophyHP:0002836
- Umbilical herniaHP:0001537
- Upper limb peromeliaHP:0009814