VACTERL with hydrocephalus
- Synonyms
- VACTERL association with hydrocephalus; VACTERL-H
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of limbs
- Absent thumb
Absent thumb
- MedGen UID: 480441
- Concept ID: C3278811
- Finding: Finding
Abnormality of limbs
- Radial club hand
Radial club hand
- MedGen UID: 870951
- Concept ID: C4025414
- Finding: Congenital Abnormality
Abnormality of limbs
- Absent thumb
- Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
Abnormal cardiovascular system morphology
- MedGen UID: 892473
- Concept ID: C4049796
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Abnormal heart morphology
Abnormal heart morphology
- MedGen UID: 6748
- Concept ID: C0018798
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal cardiovascular system morphology
- Abnormality of the digestive system
- Imperforate anus
Imperforate anus
- MedGen UID: 1997
- Concept ID: C0003466
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Imperforate anus
- Abnormality of the genitourinary system
- Renal hypoplasia
Renal hypoplasia
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal hypoplasia
- Abnormality of the musculoskeletal system
- Abnormal vertebral morphology
Abnormal vertebral morphology
- MedGen UID: 371742
- Concept ID: C1834129
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Abnormality of the vertebral column
Abnormality of the vertebral column
- MedGen UID: 892426
- Concept ID: C4021789
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Abnormal vertebral morphology
- Abnormality of the nervous system
- Aqueductal stenosis
Aqueductal stenosis
- MedGen UID: 75614
- Concept ID: C0266476
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Aqueductal stenosis
- Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory failure
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