Arthrogryposis, Perthes disease, and upward gaze palsy
Available tests
Clinical tests (5 available)
Clinical features
Help- Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Full cheeks
- Abnormality of limbs
- Overlapping toe
Overlapping toe
- MedGen UID: 182531
- Concept ID: C0920299
- Finding: Anatomical Abnormality
Abnormality of limbs
- Overlapping toe
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Pulmonic stenosis
Pulmonic stenosis
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
Congenital hypertrophic pyloric stenosis
- MedGen UID: 196010
- Concept ID: C0700639
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Congenital hypertrophic pyloric stenosis
- Abnormality of the eye
- Upgaze palsy
Upgaze palsy
- MedGen UID: 1369853
- Concept ID: C4476705
- Finding: Disease or Syndrome
Abnormality of the eye
- Upgaze palsy
- Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Atopic eczema
Atopic eczema
- MedGen UID: 41502
- Concept ID: C0011615
- Finding: Disease or Syndrome
Abnormality of the immune system
- Asthma
- Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
Arthrogryposis multiplex congenita
- MedGen UID: 1830310
- Concept ID: C5779613
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Legg-Calve-Perthes disease
Legg-Calve-Perthes disease
- MedGen UID: 730669
- Concept ID: C1442965
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
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