Synonym(s): - Facio-genito-popliteal syndrome - Popliteal web syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
IRF6	O14896	607199

- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Hirsutism / hypertrichosis / Increased body hair
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Syndactyly of toes
- Thin / retracted lips

- Anomalies of the ribs
- Bifid scrotum
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved toenails
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Lip pits / fistulae
- Nails anomalies
- Oral synechiae / abnormal frenulae
- Popliteal web
- Scoliosis
- Syndactyly of fingers / interdigital palm
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Ambiguous genitalia
- Choanal atresia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Oligodactyly / ectrodactyly of fingers