Synonym(s): - Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		External references: 1 OMIM reference - See 1 MeSH reference: C537015
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ANKRD11	Q6UB99	611192

- Abnormal vertebral size / shape
- Absent / decreased / thin eyebrows
- Anomalies of the ribs
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Complete / partial macrodontia
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Round face
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Telecanthus / canthal dystopy

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anodontia / oligodontia / hypodontia
- EEG anomalies
- Hypertelorism
- Low hair line (back)
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Short neck
- Simian crease / transverse / unique palmar crease
- Strabismus / squint
- Syndactyly of fingers / interdigital palm

- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Enamel anomaly
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Hearing loss / hypoacusia / deafness
- Pointed chin
- Postaxial polydactyly (hand)
- Undescended / ectopic testes / cryptorchidia / unfixed testes