Troyer syndrome
- Synonyms
- Autosomal recessive spastic paraplegia type 20; Spastic paraparesis childhood-onset with distal muscle wasting; Spastic paraplegia 20; Spastic paraplegia autosomal recessive Troyer type
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Emma Baple
- Andrew Crosby
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (42 available)
Clinical features
Help- Abnormality of head or neck
- Drooling
Drooling
- MedGen UID: 8484
- Concept ID: C0013132
- Finding: Finding
Abnormality of head or neck
- Hyperplasia of midface
Hyperplasia of midface
- MedGen UID: 451009
- Concept ID: C0240309
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Drooling
- Abnormality of limbs
- Ankle clonus
Ankle clonus
- MedGen UID: 68672
- Concept ID: C0238651
- Finding: Finding
Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Hammertoe
Hammertoe
- MedGen UID: 209712
- Concept ID: C1136179
- Finding: Anatomical Abnormality
Abnormality of limbs
- Lower limb muscle weakness
Lower limb muscle weakness
- MedGen UID: 324478
- Concept ID: C1836296
- Finding: Finding
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Short foot
Short foot
- MedGen UID: 376415
- Concept ID: C1848673
- Finding: Finding
Abnormality of limbs
- Ulnar deviation of the hand
Ulnar deviation of the hand
- MedGen UID: 66031
- Concept ID: C0241521
- Finding: Finding
Abnormality of limbs
- Ankle clonus
- Abnormality of the digestive system
- Chronic constipation
Chronic constipation
- MedGen UID: 98325
- Concept ID: C0401149
- Finding: Sign or Symptom
Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Chronic constipation
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Urinary urgency
Urinary urgency
- MedGen UID: 39315
- Concept ID: C0085606
- Finding: Finding
Abnormality of the genitourinary system
- Urinary urgency
- Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Distal amyotrophy
Distal amyotrophy
- MedGen UID: 338530
- Concept ID: C1848736
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Hyperextensible hand joints
Hyperextensible hand joints
- MedGen UID: 347323
- Concept ID: C1856877
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
- Abnormality of the nervous system
- Abnormal cerebellum morphology
Abnormal cerebellum morphology
- MedGen UID: 400925
- Concept ID: C1866129
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Emotional lability
Emotional lability
- MedGen UID: 39319
- Concept ID: C0085633
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait disturbance
Gait disturbance
- MedGen UID: 107895
- Concept ID: C0575081
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Impaired vibration sensation at ankles
Impaired vibration sensation at ankles
- MedGen UID: 343107
- Concept ID: C1854372
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, mild
Intellectual disability, mild
- MedGen UID: 10044
- Concept ID: C0026106
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Knee clonus
Knee clonus
- MedGen UID: 488908
- Concept ID: C0520823
- Finding: Finding
Abnormality of the nervous system
- Lower limb spasticity
Lower limb spasticity
- MedGen UID: 220865
- Concept ID: C1271100
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Spastic gait
Spastic gait
- MedGen UID: 115907
- Concept ID: C0231687
- Finding: Finding
Abnormality of the nervous system
- Spastic paraparesis
Spastic paraparesis
- MedGen UID: 52432
- Concept ID: C0037771
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic paraplegia
Spastic paraplegia
- MedGen UID: 20882
- Concept ID: C0037772
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Upper limb spasticity
Upper limb spasticity
- MedGen UID: 220882
- Concept ID: C1273957
- Finding: Finding
Abnormality of the nervous system
- Abnormal cerebellum morphology
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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