Distal arthrogryposis type 2B1
- Synonyms
- Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities; TNNI2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (55 available)
Clinical features
Help- Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Prominent nasolabial fold
Prominent nasolabial fold
- MedGen UID: 355725
- Concept ID: C1866487
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Webbed neck
Webbed neck
- MedGen UID: 113154
- Concept ID: C0221217
- Finding: Congenital Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
- Abnormality of limbs
- Absent phalangeal crease
Absent phalangeal crease
- MedGen UID: 349522
- Concept ID: C1862479
- Finding: Finding
Abnormality of limbs
- Calcaneovalgus deformity
Calcaneovalgus deformity
- MedGen UID: 395489
- Concept ID: C1860450
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Congenital vertical talus
Congenital vertical talus
- MedGen UID: 66821
- Concept ID: C0240912
- Finding: Congenital Abnormality
Abnormality of limbs
- Metatarsus adductus
Metatarsus adductus
- MedGen UID: 898667
- Concept ID: C4082169
- Finding: Anatomical Abnormality
Abnormality of limbs
- Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand
- MedGen UID: 892857
- Concept ID: C4048199
- Finding: Finding
Abnormality of limbs
- Ulnar deviation of the wrist
Ulnar deviation of the wrist
- MedGen UID: 115906
- Concept ID: C0231678
- Finding: Sign or Symptom
Abnormality of limbs
- Absent phalangeal crease
- 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 of finger
Camptodactyly of finger
- MedGen UID: 98041
- Concept ID: C0409348
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal arthrogryposis
Distal arthrogryposis
- MedGen UID: 120512
- Concept ID: C0265213
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Arthrogryposis multiplex congenita
- Ear malformation
- Ear malformation
Ear malformation
- MedGen UID: 75618
- Concept ID: C0266589
- Finding: Congenital Abnormality
Ear malformation
- Ear malformation
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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