Metaphyseal chondrodysplasia, Jansen type
- Synonyms
- Metaphyseal chondrodysplasia Murk Jansen type
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 available)
Clinical features
Help- Abnormality of head or neck
- Choanal atresia
Choanal atresia
- MedGen UID: 3395
- Concept ID: C0008297
- Finding: Congenital Abnormality
Abnormality of head or neck
- Choanal stenosis
Choanal stenosis
- MedGen UID: 108427
- Concept ID: C0584837
- Finding: Finding
Abnormality of head or neck
- Prominent supraorbital arches in adult
Prominent supraorbital arches in adult
- MedGen UID: 320494
- Concept ID: C1834993
- Finding: Finding
Abnormality of head or neck
- Tooth malposition
Tooth malposition
- MedGen UID: 377692
- Concept ID: C1852504
- Finding: Finding
Abnormality of head or neck
- Choanal atresia
- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubbing of fingers
Clubbing of fingers
- MedGen UID: 3129
- Concept ID: C0009080
- Finding: Finding
Abnormality of limbs
- Knee flexion contracture
Knee flexion contracture
- MedGen UID: 98042
- Concept ID: C0409355
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypercalcemia
Hypercalcemia
- MedGen UID: 5686
- Concept ID: C0020437
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypophosphatemia
Hypophosphatemia
- MedGen UID: 39327
- Concept ID: C0085682
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
- Abnormality of the endocrine system
- Hypoparathyroidism
Hypoparathyroidism
- MedGen UID: 6985
- Concept ID: C0020626
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypoparathyroidism
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Hypercalciuria
Hypercalciuria
- MedGen UID: 43775
- Concept ID: C0020438
- Finding: Finding
Abnormality of the genitourinary system
- Hyperphosphaturia
Hyperphosphaturia
- MedGen UID: 78638
- Concept ID: C0268079
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Nephrocalcinosis
Nephrocalcinosis
- MedGen UID: 10222
- Concept ID: C0027709
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hypercalciuria
- 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
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip contracture
Hip contracture
- MedGen UID: 140815
- Concept ID: C0409354
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia
- MedGen UID: 120528
- Concept ID: C0265290
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal cupping
Metaphyseal cupping
- MedGen UID: 323062
- Concept ID: C1837082
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pathologic fracture
Pathologic fracture
- MedGen UID: 42095
- Concept ID: C0016663
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Short long bone
Short long bone
- MedGen UID: 344385
- Concept ID: C1854912
- Finding: Finding
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Thick skull base
Thick skull base
- MedGen UID: 326511
- Concept ID: C1839507
- Finding: Finding
Abnormality of the musculoskeletal system
- Bowing of the long bones
- Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Severe short stature
Severe short stature
- MedGen UID: 3931
- Concept ID: C0013336
- Finding: Disease or Syndrome
Growth abnormality
- Severe short stature
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