Chondrodysplasia - disorder of sex development
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Chondrodysplasia - pseudohermaphrodism Nivelon-Nivelon-Mabille syndrome |
| Number of Symptoms | 38 |
| OrphanetNr: | 1422 |
| OMIM Id: |
600092
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| ICD-10: |
Q87.1 |
| 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: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with micromelia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Syndrome with 46,XY disorder of sex development -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare urogenital disease Syndrome with disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease |
Symptom Information:
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(HPO:0000037) | Male pseudohermaphroditism | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0004437) | Cranial hyperostosis | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000490) | Deeply set eye | Frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0000479) | Abnormality of the retina | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0008053) | Aplasia/Hypoplasia of the iris | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000615) | Abnormality of the pupil | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0007676) | Hypoplasia of the iris | 22 / 7739 | ||||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0010885) | Aseptic necrosis | 24 / 7739 | ||||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Very frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0005701) | Multiple enchondromatosis | 11 / 7739 | ||||
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(HPO:0000943) | Dysostosis multiplex | 22 / 7739 | ||||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0005621) | Trapezoidal shaped vertebral bodies | 1 / 7739 | ||||
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(HPO:0000889) | Abnormality of the clavicle | 3 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0001591) | Bell-shaped thorax | 35 / 7739 | ||||
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(HPO:0009803) | Short phalanx of finger | 79 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | 113 / 7739 | ||||
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(HPO:0001167) | Abnormality of finger | Very frequent [Orphanet] | 29 / 7739 | |||
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(HPO:0010049) | Short metacarpal | 99 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(OMIM) | Severe antenatal dwarfism | 1 / 7739 | ||||
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(HPO:0001320) | Cerebellar vermis hypoplasia | 57 / 7739 | ||||
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(OMIM) | Optic disc coloboma | 2 / 7739 | ||||
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(OMIM) | 46,XY karyotype | 2 / 7739 | ||||
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(HPO:0002334) | Abnormality of the cerebellar vermis | Frequent [Orphanet] | 137 / 7739 | |||
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(OMIM) | Short metacarpals and phalanges | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 7739 | |||
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(OMIM) | Abnormal clavicles | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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