Trigonocephaly - short stature - developmental delay
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Say-Meyer syndrome |
| Number of Symptoms | 34 |
| OrphanetNr: | 3369 |
| OMIM Id: |
314320
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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: | 3 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000341) | Narrow forehead | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000601) | Hypotelorism | Very frequent [Orphanet] | 83 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | 87 / 7739 | ||||
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(HPO:0000243) | Trigonocephaly | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
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(HPO:0004440) | Coronal craniosynostosis | 38 / 7739 | ||||
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(HPO:0000216) | Broad secondary alveolar ridge | 3 / 7739 | ||||
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(HPO:0011324) | Multiple suture craniosynostosis | 22 / 7739 | ||||
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(HPO:0000520) | Proptosis | Occasional [Orphanet] | 192 / 7739 | |||
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(HPO:0000286) | Epicanthus | Very frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000237) | Small anterior fontanelle | 10 / 7739 | ||||
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(HPO:0004443) | Lambdoidal craniosynostosis | 15 / 7739 | ||||
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(HPO:0005487) | Prominent metopic ridge | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | Very frequent [Orphanet] | 290 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Occasional [Orphanet] | 308 / 7739 | |||
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(HPO:0004442) | Sagittal craniosynostosis | 16 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0005494) | Premature posterior fontanelle closure | 1 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0000357) | Abnormal location of ears | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0002353) | EEG abnormality | Occasional [Orphanet] | 188 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Occasional [Orphanet] | 288 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 181 / 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:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0001518) | Small for gestational age | 107 / 7739 | ||||
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(HPO:0001629) | Ventricular septal defect | Occasional [Orphanet] | 316 / 7739 | |||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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