VACTERL with hydrocephalus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Sujansky-Leonard syndrome |
| Number of Symptoms | 33 |
| OrphanetNr: | 3412 |
| OMIM Id: |
276950
314390 |
| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 10 families [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic anorectal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000130) | Abnormality of the uterus | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0000089) | Renal hypoplasia | 78 / 7739 | ||||
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(HPO:0000035) | Abnormality of the testis | Occasional [Orphanet] | 296 / 7739 | |||
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(HPO:0008678) | Renal hypoplasia/aplasia | Very frequent [Orphanet] | 127 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Occasional [Orphanet] | 394 / 7739 | |||
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Occasional [Orphanet] | 67 / 7739 | |||
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(HPO:0002414) | Spina bifida | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0010305) | Absence of the sacrum | Occasional [Orphanet] | 17 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | 77 / 7739 | ||||
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(HPO:0009777) | Absent thumb | 31 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0001622) | Premature birth | Occasional [Orphanet] | 100 / 7739 | |||
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(HPO:0001195) | Single umbilical artery | Occasional [Orphanet] | 23 / 7739 | |||
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(HPO:0002575) | Tracheoesophageal fistula | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0002023) | Anal atresia | Very frequent [Orphanet] | 135 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0002878) | Respiratory failure | 57 / 7739 | ||||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Occasional [Orphanet] | 79 / 7739 | |||
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(HPO:0002410) | Aqueductal stenosis | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0011420) | Death | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0003826) | Stillbirth | 40 / 7739 | ||||
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(HPO:0012795) | Abnormality of the optic disc | Very frequent [Orphanet] | 187 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Very frequent [Orphanet] | 278 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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