Anauxetic dysplasia 3
Summary
Available tests
Clinical tests (3 available)
Molecular Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Broad eyebrow
Broad eyebrow
- MedGen UID: 344657
- Concept ID: C1856121
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- High anterior hairline
High anterior hairline
- MedGen UID: 477667
- Concept ID: C3276036
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Oligodontia
Oligodontia
- MedGen UID: 904670
- Concept ID: C4082304
- Finding: Congenital Abnormality
Abnormality of head or neck
- Sparse scalp hair
Sparse scalp hair
- MedGen UID: 346499
- Concept ID: C1857042
- Finding: Finding
Abnormality of head or neck
- Broad eyebrow
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad middle phalanx of finger
Broad middle phalanx of finger
- MedGen UID: 867025
- Concept ID: C4021383
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Hip subluxation
Hip subluxation
- MedGen UID: 140946
- Concept ID: C0434785
- Finding: Injury or Poisoning
Abnormality of limbs
- Short metacarpal
Short metacarpal
- MedGen UID: 323064
- Concept ID: C1837084
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short middle phalanx of finger
Short middle phalanx of finger
- MedGen UID: 337690
- Concept ID: C1846950
- Finding: Finding
Abnormality of limbs
- Trident hand
Trident hand
- MedGen UID: 98430
- Concept ID: C0426874
- Finding: Finding
Abnormality of limbs
- Brachydactyly
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the integument
- Cutis laxa
Cutis laxa
- MedGen UID: 8206
- Concept ID: C0010495
- Finding: Disease or Syndrome
Abnormality of the integument
- Small nail
Small nail
- MedGen UID: 537942
- Concept ID: C0263523
- Finding: Finding
Abnormality of the integument
- Cutis laxa
- Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
Beaking of vertebral bodies
- MedGen UID: 341588
- Concept ID: C1856599
- Finding: Finding
Abnormality of the musculoskeletal system
- Femoral bowing
Femoral bowing
- MedGen UID: 347888
- Concept ID: C1859461
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal cupping
Metaphyseal cupping
- MedGen UID: 323062
- Concept ID: C1837082
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Pectus excavatum
Pectus excavatum
- MedGen UID: 781174
- Concept ID: C2051831
- Finding: Finding
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 1825944
- Concept ID: C2081594
- Finding: Finding
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Squared iliac bones
Squared iliac bones
- MedGen UID: 324963
- Concept ID: C1838186
- Finding: Finding
Abnormality of the musculoskeletal system
- Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis
- MedGen UID: 347124
- Concept ID: C1859335
- Finding: Finding
Abnormality of the musculoskeletal system
- Wide anterior fontanel
Wide anterior fontanel
- MedGen UID: 400926
- Concept ID: C1866134
- Finding: Finding
Abnormality of the musculoskeletal system
- Beaking of vertebral bodies
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Spinal cord compression
Spinal cord compression
- MedGen UID: 11549
- Concept ID: C0037926
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
- Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Recurrent respiratory infections
- 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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