Schwartz-Jampel syndrome type 1
- Synonyms
- CHONDRODYSTROPHIC MYOTONIA; MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES; SCHWARTZ-JAMPEL-ABERFELD SYNDROME; SJA SYNDROME
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (4 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Congenital Abnormality
Abnormality of head or neck
- Concave nasal ridge
Concave nasal ridge
- MedGen UID: 78105
- Concept ID: C0264169
- Finding: Finding
Abnormality of head or neck
- Deep philtrum
Deep philtrum
- MedGen UID: 374311
- Concept ID: C1839797
- Finding: Finding
Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- Finding: Finding
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- 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
- Mask-like facies
Mask-like facies
- MedGen UID: 140860
- Concept ID: C0424448
- 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
- Narrow palpebral fissure
Narrow palpebral fissure
- MedGen UID: 382506
- Concept ID: C2675021
- Finding: Finding
Abnormality of head or neck
- Pursed lips
Pursed lips
- MedGen UID: 371254
- Concept ID: C1832130
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Blepharophimosis
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Coxa valga
Coxa valga
- MedGen UID: 116080
- Concept ID: C0239137
- Finding: Finding
Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Flexion contracture of toe
Flexion contracture of toe
- MedGen UID: 237248
- Concept ID: C1406835
- Finding: Finding
Abnormality of limbs
- Micromelia
Micromelia
- MedGen UID: 10031
- Concept ID: C0025995
- Finding: Congenital Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Malignant hyperthermia
Malignant hyperthermia
- MedGen UID: 1830388
- Concept ID: C5779784
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Microcornea
Microcornea
- MedGen UID: 78610
- Concept ID: C0266544
- Finding: Congenital Abnormality
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Cataract
- Abnormality of the genitourinary system
- Decreased testicular size
Decreased testicular size
- MedGen UID: 66027
- Concept ID: C0241355
- Finding: Finding
Abnormality of the genitourinary system
- Decreased testicular size
- Abnormality of the integument
- Generalized hirsutism
Generalized hirsutism
- MedGen UID: 336538
- Concept ID: C1849211
- Finding: Finding
Abnormality of the integument
- Long eyelashes in irregular rows
Long eyelashes in irregular rows
- MedGen UID: 340588
- Concept ID: C1850640
- Finding: Finding
Abnormality of the integument
- Generalized hirsutism
- Abnormality of the musculoskeletal system
- Abnormal femoral epiphysis morphology
Abnormal femoral epiphysis morphology
- MedGen UID: 870585
- Concept ID: C4025034
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Anterior bowing of long bones
Anterior bowing of long bones
- MedGen UID: 342554
- Concept ID: C1850644
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the legs
Bowing of the legs
- MedGen UID: 1807399
- Concept ID: C5574706
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the long bones
Bowing of the long bones
- MedGen UID: 340849
- Concept ID: C1855340
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Cervical kyphosis
Cervical kyphosis
- MedGen UID: 107898
- Concept ID: C0575170
- Finding: Finding
Abnormality of the musculoskeletal system
- Congenital hip dislocation
Congenital hip dislocation
- MedGen UID: 9258
- Concept ID: C0019555
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Coronal cleft vertebrae
Coronal cleft vertebrae
- MedGen UID: 320483
- Concept ID: C1834954
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- EMG: myotonic discharges
EMG: myotonic discharges
- MedGen UID: 867779
- Concept ID: C4022169
- Finding: Finding
Abnormality of the musculoskeletal system
- Hip contracture
Hip contracture
- MedGen UID: 140815
- Concept ID: C0409354
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint contracture of the hand
Joint contracture of the hand
- MedGen UID: 56382
- Concept ID: C0158113
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal widening
Metaphyseal widening
- MedGen UID: 341364
- Concept ID: C1849039
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Muscle stiffness
Muscle stiffness
- MedGen UID: 113151
- Concept ID: C0221170
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pectus carinatum
Pectus carinatum
- MedGen UID: 57643
- Concept ID: C0158731
- Finding: Finding
Abnormality of the musculoskeletal system
- Percussion myotonia
Percussion myotonia
- MedGen UID: 148293
- Concept ID: C0751359
- Finding: Finding
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Quadriceps muscle weakness
Quadriceps muscle weakness
- MedGen UID: 154367
- Concept ID: C0577655
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Shoulder flexion contracture
Shoulder flexion contracture
- MedGen UID: 592333
- Concept ID: C0409336
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Skeletal muscle hypertrophy
Skeletal muscle hypertrophy
- MedGen UID: 853739
- Concept ID: C2265792
- Finding: Finding
Abnormality of the musculoskeletal system
- Squared iliac bones
Squared iliac bones
- MedGen UID: 324963
- Concept ID: C1838186
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Wrist flexion contracture
Wrist flexion contracture
- MedGen UID: 592338
- Concept ID: C0409345
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Abnormal femoral epiphysis morphology
- Abnormality of the nervous system
- High pitched voice
High pitched voice
- MedGen UID: 66836
- Concept ID: C0241703
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- High pitched voice
- Abnormality of the voice
- Weak voice
Weak voice
- MedGen UID: 66033
- Concept ID: C0241700
- Finding: Finding
Abnormality of the voice
- Weak voice
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Overfolded helix
Overfolded helix
- MedGen UID: 325239
- Concept ID: C1837731
- Finding: Finding
Ear malformation
- Low-set ears
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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