XK aprosencephaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
XK SYNDROME garcia-lurie syndrome Atelencephaly |
| Number of Symptoms | 19 |
| OrphanetNr: | 3469 |
| OMIM Id: |
207770
|
| ICD-10: |
Q04.3 |
| UMLs: |
C0431348 C0795952 |
| MeSH: |
C536767 |
| MedDRA: |
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| Snomed: |
277921008 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Syndrome with a cerebellar malformation as major feature
-Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000601) | Hypotelorism | Occasional [Orphanet] | 83 / 7739 | |||
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(HPO:0000600) | Abnormality of the pharynx | Frequent [Orphanet] | 22 / 7739 | |||
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(HPO:0009932) | Single naris | Frequent [Orphanet] | 10 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Very frequent [Orphanet] | 142 / 7739 | |||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001180) | Hand oligodactyly | 17 / 7739 | ||||
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(HPO:0012165) | Oligodactyly | 18 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | Occasional [Orphanet] | 191 / 7739 | |||
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(HPO:0004378) | Abnormality of the anus | Frequent [Orphanet] | 34 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0002323) | Anencephaly | 28 / 7739 | ||||
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(HPO:0007268) | Aprosencephaly | 2 / 7739 | ||||
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(OMIM) | Humerus and radius fused | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Townes et al. (1988) described a sibship in which there were twins with anencephaly and a female infant with aprosencephaly, fused humerus and radius, and oligodactyly. Townes et al. (1988) suggested that the XK aprosencephaly syndrome may be ... |