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Camptodactyly syndrome, Guadalajara type 1
ORPHA:1327 · Malformation syndrome · Disorder
HPO 表現型（共 47 項）
Very frequent (99-80%)(12)
- Abnormal vertebral body morphologyHP:0003312
- Abnormality of dental eruptionHP:0006292
- Attached earlobeHP:0009907
- Camptodactyly of fingerHP:0100490
- Dental malocclusionHP:0000689
- Flat faceHP:0012368
- MicrotiaHP:0008551
- Midface retrusionHP:0011800
- Open biteHP:0010807
- Pectus carinatumHP:0000768
- Pectus excavatumHP:0000767
- TelecanthusHP:0000506
Frequent (79-30%)(28)
- Anteverted naresHP:0000463
- BrachycephalyHP:0000248
- BrachydactylyHP:0001156
- Cubitus valgusHP:0002967
- Delayed skeletal maturationHP:0002750
- Depressed nasal bridgeHP:0005280
- Downturned corners of mouthHP:0002714
- EpicanthusHP:0000286
- Global developmental delayHP:0001263
- Hallux valgusHP:0001822
- High palateHP:0000218
- Intellectual disabilityHP:0001249
- Intrauterine growth retardationHP:0001511
- Mandibular prognathiaHP:0000303
- Melanocytic nevusHP:0000995
- MicrocephalyHP:0000252
- MicrocorneaHP:0000482
- Narrow chestHP:0000774
- Narrow faceHP:0000275
- Narrow mouthHP:0000160
- Scapular wingingHP:0003691
- SeizureHP:0001250
- Short noseHP:0003196
- Short statureHP:0004322
- Short toeHP:0001831
- Spina bifidaHP:0002414
- Toe syndactylyHP:0001770
- Underdeveloped supraorbital ridgesHP:0009891
Occasional (29-5%)(7)
- BlepharophimosisHP:0000581
- Highly arched eyebrowHP:0002553
- Long faceHP:0000276
- Posteriorly rotated earsHP:0000358
- Sacral dimpleHP:0000960
- Short distal phalanx of fingerHP:0009882
- SynophrysHP:0000664