Teebi-Shaltout syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CRANIOFACIAL ANOMALIES, ABNORMAL HAIR, CAMPTODACTYLY, AND CAUDAL APPENDAGE |
| Number of Symptoms | 25 |
| OrphanetNr: | 3291 |
| OMIM Id: |
272950
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| ICD-10: |
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| UMLs: |
C1848912 |
| MeSH: |
C536950 |
| 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: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with predominant craniofacial involvement
-Rare bone disease -Rare developmental defect during embryogenesis Ectodermal dysplasia syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000268) | Dolichocephaly | Very frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000581) | Blepharophimosis | Very frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000341) | Narrow forehead | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Very frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000160) | Narrow mouth | Very frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0000508) | Ptosis | Very frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Frequent [Orphanet] | 67 / 7739 | |||
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(HPO:0100720) | Hypoplasia of the ear cartilage | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0009906) | Aplasia/Hypoplasia of the earlobes | Frequent [Orphanet] | 41 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0100625) | Enlarged thorax | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0010769) | Pilonidal sinus | Very frequent [Orphanet] | 35 / 7739 | |||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0003100) | Slender long bone | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000957) | Cafe-au-lait spot | Frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0001601) | Laryngomalacia | Very frequent [Orphanet] | 61 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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