Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
- Synonyms
- METAPHYSEAL DYSPLASIA AND MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (30 available)
Clinical features
Help- Abnormality of head or neck
- Convex nasal ridge
Convex nasal ridge
- MedGen UID: 66809
- Concept ID: C0240538
- Finding: Finding
Abnormality of head or neck
- Premature loss of teeth
Premature loss of teeth
- MedGen UID: 66678
- Concept ID: C0232513
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Thin vermilion border
Thin vermilion border
- MedGen UID: 108294
- Concept ID: C0578038
- Finding: Finding
Abnormality of head or neck
- Convex nasal ridge
- Abnormality of limbs
- Short 5th metacarpal
Short 5th metacarpal
- MedGen UID: 348858
- Concept ID: C1861388
- Finding: Finding
Abnormality of limbs
- Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger
- MedGen UID: 867077
- Concept ID: C4021435
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
- MedGen UID: 322335
- Concept ID: C1834060
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short 5th metacarpal
- Abnormality of the musculoskeletal system
- Flared metaphysis
Flared metaphysis
- MedGen UID: 337976
- Concept ID: C1850135
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
Hypoplasia of the maxilla
- MedGen UID: 66804
- Concept ID: C0240310
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Metaphyseal dysplasia
Metaphyseal dysplasia
- MedGen UID: 1677924
- Concept ID: C5194606
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Multiple small vertebral fractures
Multiple small vertebral fractures
- MedGen UID: 870665
- Concept ID: C4025119
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Osteoporosis of vertebrae
Osteoporosis of vertebrae
- MedGen UID: 870716
- Concept ID: C4025170
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Flared metaphysis
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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