Cardioacrofacial dysplasia 2
Summary
Available tests
Clinical tests (2 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Accessory oral frenulum
Accessory oral frenulum
- MedGen UID: 867439
- Concept ID: C4021814
- Finding: Congenital Abnormality
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Conical tooth
Conical tooth
- MedGen UID: 82730
- Concept ID: C0266037
- Finding: Congenital Abnormality
Abnormality of head or neck
- Deep philtrum
Deep philtrum
- MedGen UID: 374311
- Concept ID: C1839797
- Finding: Finding
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Prominent nasal tip
Prominent nasal tip
- MedGen UID: 383839
- Concept ID: C1856118
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Tented upper lip vermilion
Tented upper lip vermilion
- MedGen UID: 326574
- Concept ID: C1839767
- Finding: Finding
Abnormality of head or neck
- Accessory oral frenulum
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubbing
Clubbing
- MedGen UID: 57692
- Concept ID: C0149651
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Limb undergrowth
Limb undergrowth
- MedGen UID: 116086
- Concept ID: C0239399
- Finding: Finding
Abnormality of limbs
- Postaxial foot polydactyly
Postaxial foot polydactyly
- MedGen UID: 384489
- Concept ID: C2112129
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Brachydactyly
- Abnormality of the cardiovascular system
- Atrioventricular canal defect
Atrioventricular canal defect
- MedGen UID: 235591
- Concept ID: C1389016
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Common atrium
Common atrium
- MedGen UID: 488886
- Concept ID: C0392482
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Left superior vena cava draining to coronary sinus
Left superior vena cava draining to coronary sinus
- MedGen UID: 393830
- Concept ID: C2677768
- Finding: Finding
Abnormality of the cardiovascular system
- Atrioventricular canal defect
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Nail dysplasia
Nail dysplasia
- MedGen UID: 331737
- Concept ID: C1834405
- Finding: Congenital Abnormality
Abnormality of the integument
- Nail dysplasia
- Abnormality of the musculoskeletal system
- Long thorax
Long thorax
- MedGen UID: 108393
- Concept ID: C0575484
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Recurrent patellar dislocation
Recurrent patellar dislocation
- MedGen UID: 592395
- Concept ID: C0409412
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Long thorax
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