Bamforth syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BAMFORTH-LAZARUS SYNDROME HYPOTHYROIDISM, THYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE, INCLUDED Bamforth-Lazarus syndrome Hypothyroidism - cleft palate |
| Number of Symptoms | 14 |
| OrphanetNr: | 1226 |
| OMIM Id: |
241850
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| ICD-10: |
E03.1 |
| UMLs: |
C1855794 |
| MeSH: |
C537901 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Orofacial clefting syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndromic hypothyroidism -Rare endocrine disease -Rare genetic disease |
Symptom Information:
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
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(HPO:0000453) | Choanal atresia | Very frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0005990) | Thyroid hypoplasia | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0008191) | Thyroid agenesis | 11 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0003777) | Pili torti | Very frequent [Orphanet] | 24 / 7739 | |||
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(HPO:0010564) | Bifid epiglottis | 2 / 7739 | ||||
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(OMIM) | Spiky hair | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 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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