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Bamforth syndrome
1 OMIM reference -
1 associated gene
3 connected diseases
10 signs/symptoms
Disease Type of connection
Athyreosis
Papillary or follicular thyroid carcinoma
Thyroid hypoplasia
Synonym(s):
- Bamforth-Lazarus syndrome
- Hypothyroidism - cleft palate

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease

Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537901

Gene symbol UniProt reference OMIM reference
FOXE1 O00358602617
Very frequent
- Autosomal recessive inheritance
- Choanal atresia
- Cleft lip and palate
- Ectopic / agenesis / dysgenesis / hypoplastic thyroid
- Hypothyroidy
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pili torti
- Polyhydramnios