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C syndrome
ORPHA:1308 · Malformation syndrome · Disorder
HPO 表現型（共 54 項）
Very frequent (99-80%)(20)
- Anteverted naresHP:0000463
- Biparietal narrowingHP:0004422
- Clinodactyly of the 5th fingerHP:0004209
- CryptorchidismHP:0000028
- Depressed nasal bridgeHP:0005280
- EpicanthusHP:0000286
- Female pseudohermaphroditismHP:0010458
- Gingival overgrowthHP:0000212
- High palateHP:0000218
- Hypoplasia of the ear cartilageHP:0100720
- Intellectual disabilityHP:0001249
- Long philtrumHP:0000343
- MicrocephalyHP:0000252
- MicrognathiaHP:0000347
- Posteriorly rotated earsHP:0000358
- Short neckHP:0000470
- Short noseHP:0003196
- Smooth philtrumHP:0000319
- TrigonocephalyHP:0000243
- Upslanted palpebral fissureHP:0000582
Frequent (79-30%)(20)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormality of immune system physiologyHP:0010978
- Abnormality of the anusHP:0004378
- Accessory oral frenulumHP:0000191
- Bilateral single transverse palmar creasesHP:0007598
- Dislocated radial headHP:0003083
- Failure to thrive in infancyHP:0001531
- HypotoniaHP:0001252
- Joint dislocationHP:0001373
- Limitation of joint mobilityHP:0001376
- MicromeliaHP:0002983
- Midline facial capillary hemangiomaHP:0007601
- Pectus excavatumHP:0000767
- Redundant skinHP:0001582
- Sacral dimpleHP:0000960
- SeizureHP:0001250
- Short statureHP:0004322
- StrabismusHP:0000486
- TalipesHP:0001883
- Thin vermilion borderHP:0000233
Occasional (29-5%)(14)
- Abnormal hair patternHP:0010720
- Aplasia/Hypoplasia of the abdominal wall musculatureHP:0010318
- Aplasia/Hypoplasia of the corpus callosumHP:0007370
- Cleft palateHP:0000175
- Congenital diaphragmatic herniaHP:0000776
- ConstipationHP:0002019
- Death in infancyHP:0001522
- Hand polydactylyHP:0001161
- Horseshoe kidneyHP:0000085
- Multicystic kidney dysplasiaHP:0000003
- OmphaloceleHP:0001539
- PolyhydramniosHP:0001561
- Renal hypoplasia/aplasiaHP:0008678
- Toe syndactylyHP:0001770