Cardioacrofacial dysplasia 1
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
- Conical tooth
Conical tooth
- MedGen UID: 82730
- Concept ID: C0266037
- Finding: Congenital Abnormality
Abnormality of head or neck
- Diastema
Diastema
- MedGen UID: 3800
- Concept ID: C0011998
- Finding: Finding
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Overhanging nasal tip
Overhanging nasal tip
- MedGen UID: 604869
- Concept ID: C0426430
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Accessory oral frenulum
- 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 polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Disease or Syndrome
Abnormality of limbs
- Genu valgum
- 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
- Complete atrioventricular canal
Complete atrioventricular canal
- MedGen UID: 65132
- Concept ID: C0221215
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrioventricular canal defect
- 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
- Hypoplasia of the maxilla
Hypoplasia of the maxilla
- MedGen UID: 66804
- Concept ID: C0240310
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Long thorax
Long thorax
- MedGen UID: 108393
- Concept ID: C0575484
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
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