Synonym(s): (no synonyms)
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
WNT5A	P41221	164975

- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Broad nose / nasal bridge
- Hypertelorism
- Mesomelic micromelia
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Short hand / brachydactyly
- Short / small nose

- Cleft lip and palate
- Cleft / notched / bifid tongue
- Clinodactyly of fifth finger
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Dental malocclusion
- Depressed nasal bridge
- Downturned mouth
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pectus excavatum
- Proptosis / exophthalmos
- Short stature / dwarfism / nanism
- Thickened / hypertrophic / fibromatous gingivae
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Vertebral segmentation anomaly / hemivertebrae

- Alopecia
- Anodontia / oligodontia / hypodontia
- Anus ectopia / anteposition / malposition
- Blue sclerae
- Camptodactyly of fingers
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Congenital cardiac anomaly / malformation / cardiopathy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysplastic / thick / grooved fingernails
- Elbow dislocation
- Exaggerated cupid bows
- Hearing loss / hypoacusia / deafness
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Multicystic kidney / renal dysplasia
- Pectus carinatum
- Ptosis
- Repeat respiratory infections
- Sacral sinus / dimple
- Scoliosis
- Short neck
- Short philtrum
- Strabismus / squint
- Supernumerary teeth / polyodontia
- Syndactyly of fingers / interdigital palm