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Roberts syndrome
ORPHA:3103 · Malformation syndrome · Disorder
HPO 表現型（共 54 項）
Very frequent (99-80%)(18)
- Abnormality of the upper limbHP:0002817
- Aplasia/Hypoplasia of the thumbHP:0009601
- Bowing of the long bonesHP:0006487
- BrachycephalyHP:0000248
- Clinodactyly of the 5th fingerHP:0004209
- Complete duplication of thumb phalanxHP:0009943
- HypertelorismHP:0000316
- Hypoplasia of the radiusHP:0002984
- Malar flatteningHP:0000272
- Mesomelic arm shorteningHP:0005011
- MicrocephalyHP:0000252
- PhocomeliaHP:0009829
- Postnatal growth retardationHP:0008897
- Proximal placement of thumbHP:0009623
- Radial deviation of fingerHP:0009466
- Severe intrauterine growth retardationHP:0008846
- Sparse hairHP:0008070
- Underdeveloped nasal alaeHP:0000430
Frequent (79-30%)(18)
- Abnormal cardiovascular system morphologyHP:0030680
- Abnormal pinna morphologyHP:0000377
- Absent earlobeHP:0000387
- BrachydactylyHP:0001156
- CataractHP:0000518
- Cleft palateHP:0000175
- Cleft upper lipHP:0000204
- Clitoral hypertrophyHP:0008665
- CryptorchidismHP:0000028
- Global developmental delayHP:0001263
- Intellectual disabilityHP:0001249
- Long penisHP:0000040
- MicrognathiaHP:0000347
- Midface capillary hemangiomaHP:0007452
- Premature birthHP:0001622
- ProptosisHP:0000520
- Radioulnar synostosisHP:0002974
- Underdeveloped supraorbital ridgesHP:0009891
Occasional (29-5%)(18)
- Bilateral single transverse palmar creasesHP:0007598
- Blue scleraeHP:0000592
- CraniosynostosisHP:0001363
- Finger syndactylyHP:0006101
- GlaucomaHP:0000501
- High palateHP:0000218
- Knee flexion contractureHP:0006380
- MicrophthalmiaHP:0000568
- NystagmusHP:0000639
- Patellar aplasiaHP:0006443
- Polycystic kidney dysplasiaHP:0000113
- PolyhydramniosHP:0001561
- Progressive flexion contracturesHP:0005876
- Sandal gapHP:0001852
- Short neckHP:0000470
- Synostosis of carpal bonesHP:0005048
- ThrombocytopeniaHP:0001873
- Wrist flexion contractureHP:0001239