Thanatophoric dysplasia type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TD2 Cloverleaf skull - micromelic bone dysplasia Thanatophoric dwarfism type 2 Thanatophoric dwarfism - cloverleaf skull |
| Number of Symptoms | 35 |
| OrphanetNr: | 93274 |
| OMIM Id: |
156830
187601 |
| ICD-10: |
Q77.1 |
| 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: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Thanatophoric dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000077) | Abnormality of the kidney | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0002676) | Cloverleaf skull | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0002084) | Encephalocele | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0005257) | Thoracic hypoplasia | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0000926) | Platyspondyly | Very frequent [Orphanet] | 150 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0010880) | Increased nuchal translucency | Frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0001561) | Polyhydramnios | Frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0000956) | Acanthosis nigricans | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0001582) | Redundant skin | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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