Cooper-Jabs syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Aural atresia - multiple congenital anomalies - intellectual deficit |
| Number of Symptoms | 32 |
| OrphanetNr: | 1488 |
| OMIM Id: |
209770
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| 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: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000248) | Brachycephaly | Very frequent [Orphanet] | 222 / 7739 | |||
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(HPO:0010650) | Hypoplasia of the premaxilla | Very frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Very frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000405) | Conductive hearing impairment | Very frequent [Orphanet] | 164 / 7739 | |||
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(HPO:0000372) | Abnormality of the auditory canal | Very frequent [Orphanet] | 49 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0004452) | Abnormality of the middle ear ossicles | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000413) | Atresia of the external auditory canal | 32 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004349) | Reduced bone mineral density | Frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0001385) | Hip dysplasia | Frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0000772) | Abnormality of the ribs | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0009623) | Proximal placement of thumb | Very frequent [Orphanet] | 50 / 7739 | |||
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(HPO:0000921) | Missing ribs | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0000775) | Abnormality of the diaphragm | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001545) | Anteriorly placed anus | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0001438) | Abnormality of the abdomen | 28 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | Very frequent [Orphanet] | 316 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Anus anteriorly displaced | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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