Pfeiffer-Palm-Teller syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE PPT SYNDROME |
| Number of Symptoms | 24 |
| OrphanetNr: | 2871 |
| OMIM Id: |
261560
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| ICD-10: |
Q87.1 |
| UMLs: |
C1849929 |
| MeSH: |
C537889 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| 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:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000298) | Mask-like facies | Very frequent [Orphanet] | 44 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000682) | Abnormality of dental enamel | Occasional [Orphanet] | 102 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0000411) | Protruding ear | Very frequent [Orphanet] | 140 / 7739 | |||
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(HPO:0000378) | Cupped ear | 34 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0002750) | Delayed skeletal maturation | Frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0010579) | Cone-shaped epiphysis | Frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0004299) | Hernia of the abdominal wall | Occasional [Orphanet] | 176 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001650) | Aortic valve stenosis | 49 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
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(HPO:0001620) | High pitched voice | 32 / 7739 | ||||
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(HPO:0001608) | Abnormality of the voice | Very frequent [Orphanet] | 126 / 7739 | |||
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(MedDRA:10010369) | Congenital aortic stenosis | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Joint stiffness, progressive | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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