Short-rib thoracic dysplasia 18 with polydactyly
Summary
Available tests
Clinical tests (14 available)
Clinical features
Help- Abnormality of head or neck
- Cystic hygroma
Cystic hygroma
- MedGen UID: 60195
- Concept ID: C0206620
- Finding: Neoplastic Process
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Cystic hygroma
- Abnormality of limbs
- 2-3 toe syndactyly
2-3 toe syndactyly
- MedGen UID: 1645640
- Concept ID: C4551570
- Finding: Congenital Abnormality
Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Micromelia
Micromelia
- MedGen UID: 10031
- Concept ID: C0025995
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial polydactyly
Postaxial polydactyly
- MedGen UID: 67394
- Concept ID: C0220697
- Finding: Disease or Syndrome
Abnormality of limbs
- Preaxial polydactyly
Preaxial polydactyly
- MedGen UID: 87498
- Concept ID: C0345354
- Finding: Congenital Abnormality
Abnormality of limbs
- Radial bowing
Radial bowing
- MedGen UID: 347136
- Concept ID: C1859399
- Finding: Anatomical Abnormality
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Ulnar bowing
Ulnar bowing
- MedGen UID: 356099
- Concept ID: C1865847
- Finding: Finding
Abnormality of limbs
- 2-3 toe syndactyly
- Abnormality of the digestive system
- Intestinal malrotation
Intestinal malrotation
- MedGen UID: 113153
- Concept ID: C0221210
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Intestinal malrotation
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the genitourinary system
- Hyperechogenic kidneys
Hyperechogenic kidneys
- MedGen UID: 477530
- Concept ID: C3275899
- Finding: Finding
Abnormality of the genitourinary system
- Polycystic kidney disease
Polycystic kidney disease
- MedGen UID: 9639
- Concept ID: C0022680
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hyperechogenic kidneys
- Abnormality of the musculoskeletal system
- Decreased calvarial ossification
Decreased calvarial ossification
- MedGen UID: 322270
- Concept ID: C1833762
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypoplastic ischia
Hypoplastic ischia
- MedGen UID: 347146
- Concept ID: C1859447
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Missing ribs
Missing ribs
- MedGen UID: 98093
- Concept ID: C0426816
- Finding: Finding
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Thoracic hypoplasia
Thoracic hypoplasia
- MedGen UID: 373339
- Concept ID: C1837482
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Vertebral wedging
Vertebral wedging
- MedGen UID: 120495
- Concept ID: C0264112
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Decreased calvarial ossification
- Abnormality of the nervous system
- Choroid plexus cyst
Choroid plexus cyst
- MedGen UID: 87376
- Concept ID: C0338597
- Finding: Finding
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Choroid plexus cyst
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