Bamforth-Lazarus syndrome
Synonyms: Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome · Hypothyroidism-cleft palate syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bamforth-Lazarus syndrome | Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome · Hypothyroidism-cleft palate syndrome |
| fr | Syndrome de Bamforth-Lazarus | Syndrome d'hypothyroïdie par athyréose-cheveux hérissés-fente palatine · Syndrome d'hypothyroïdie-fente palatine · Syndrome de Bamforth |
| de | Bamforth-Lazarus-Syndrom | Bamforth-Syndrom · Hypothyreose - Gaumenspalte |
| es | Síndrome de Bamforth | Síndrome de Bamforth-Lazarus · Síndrome de hipotiroidismo-paladar hendido |
| it | Sindrome di Bamforth-Lazarus | Ipotiroidismo - schisi palatina · Sindrome di Bamforth |
| nl | Syndroom van Bamforth-Lazarus | Athyroïdale hypothyreoïdie - stekelig haar - gespleten verhemelte-syndroom · Hypothyreoïdie - gespleten verhemelte-syndroom · Syndroom van Bamforth |
| pt | Síndrome Bamforth | |
| pl | Zespół Bamfortha | Niedoczynność przytarczyc - rozszczep podniebienia · Zespół Bamfortha i Lazarusa |
| cs | Bamforthův-Lazarusův syndrom | Syndrom zahrnující netyreoidální hypotyreózu, naježené vlasy a rozštěp patra · Bamforthův syndrom · Syndrom zahrnující hypotyreózu a rozštěp patra · Bamforth-Lazarusův syndrom |
| uk | Синдром Бамфорта-Лазаруса | Синдром атиреоїдного гіпотиреозу - гострого волосся - розщілини піднебіння · Синдром Бамфорта · Синдром гіпотиреозу - розщілини піднебіння |
| zh | Bamforth-Lazarus综合征 | 五甲状腺甲状腺功能减退-头发硬直-腭裂综合征 |
| tr | Bamforth-Lazarus sendromu | Bamforth sendromu · Hipotiroidi-yarık damak sendromu · Atiroidal hipotiroidi-dikenli saç yarık damak sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241850 | E | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A00.0Y | NTBT | index | validated |
| MONDO | 0009437 | E | validated | |
| MeSH | C537901 | E | validated | |
| UMLS | C1855794 | E | validated | |
| GARD | 414 | E | validated | |
| MedDRA | 10090559 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXE1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3806 | ENSG00000178919 | 602617 | 9q22.33 | forkhead box E1 | 9697705[PMID]_12165566[PMID]_25905381[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0001561 | Polyhydramnios | |
| HP:0000278 | Retrognathia | |
| HP:0008191 | Thyroid agenesis | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1226
- This record as JSON: /data/d/1226.json