Harrod syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Cranio-facio-digito-genital syndrome |
| Number of Symptoms | 43 |
| OrphanetNr: | 2115 |
| OMIM Id: |
601095
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| ICD-10: |
Q87.0 |
| 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: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000035) | Abnormality of the testis | Frequent [Orphanet] | 296 / 7739 | |||
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(HPO:0003241) | External genital hypoplasia | 25 / 7739 | ||||
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(HPO:0000107) | Renal cyst | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0004734) | Renal cortical microcysts | 10 / 7739 | ||||
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(HPO:0003189) | Long nose | 20 / 7739 | ||||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000307) | Pointed chin | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0000276) | Long face | Very frequent [Orphanet] | 109 / 7739 | |||
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(HPO:0000689) | Dental malocclusion | 114 / 7739 | ||||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000275) | Narrow face | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000601) | Hypotelorism | Very frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001999) | Abnormal facial shape | 169 / 7739 | ||||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000518) | Cataract | Frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000400) | Macrotia | 108 / 7739 | ||||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0002251) | Aganglionic megacolon | 78 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002650) | Scoliosis | Frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001166) | Arachnodactyly | 62 / 7739 | ||||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0011302) | Long palm | Very frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0000774) | Narrow chest | Frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0004794) | Malrotation of small bowel | 2 / 7739 | ||||
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(HPO:0002021) | Pyloric stenosis | 51 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0002619) | Varicose veins | 11 / 7739 | ||||
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(OMIM) | Small bowel malrotation | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Aberrant subclavian artery | 2 / 7739 | ||||
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(HPO:0002120) | Cerebral cortical atrophy | Frequent [Orphanet] | 187 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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