Short stature - valvular heart disease - characteristic facies
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 25 |
| OrphanetNr: | 2868 |
| OMIM Id: |
126190
|
| ICD-10: |
Q87.1 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [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:
|
|
(HPO:0000218) | High palate | 356 / 7739 | ||||
|
|
(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0100729) | Large face | Very frequent [Orphanet] | 19 / 7739 | |||
|
|
(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
|
|
(HPO:0009466) | Radial deviation of finger | 101 / 7739 | ||||
|
|
(HPO:0006385) | Short lower limbs | 8 / 7739 | ||||
|
|
(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
|
|
(HPO:0200055) | Small hand | Very frequent [Orphanet] | 71 / 7739 | |||
|
|
(HPO:0002750) | Delayed skeletal maturation | Very frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0004209) | Clinodactyly of the 5th finger | Very frequent [Orphanet] | 288 / 7739 | |||
|
|
(HPO:0004279) | Short palm | 323 / 7739 | ||||
|
|
(HPO:0003498) | Disproportionate short stature | 28 / 7739 | ||||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0001633) | Abnormality of the mitral valve | Very frequent [Orphanet] | 69 / 7739 | |||
|
|
(HPO:0001654) | Abnormality of the heart valves | 49 / 7739 | ||||
|
|
(HPO:0001642) | Pulmonic stenosis | 89 / 7739 | ||||
|
|
(HPO:0004414) | Abnormality of the pulmonary artery | Very frequent [Orphanet] | 50 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Occasional [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Crowded dentition | 2 / 7739 | ||||
|
|
(MedDRA:10058668) | Clinodactyly | 91 / 7739 | ||||
|
|
(OMIM) | Thick collapsed mitral valve | 1 / 7739 | ||||
|
|
(OMIM) | Disproportionately short legs | 1 / 7739 | ||||
|
|
(HPO:0030084) | Clinodactyly | 90 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|