Synonym(s): - Multiple epiphyseal dysplasia - macrocephaly - distinctive facies
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 recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
KIF7	Q2M1P5	611254

- Autosomal recessive inheritance
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Epiphyseal anomaly
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Genu valgum
- Hypertelorism
- Joint / articular deformation
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteoarthritis
- Pectus excavatum
- Short neck
- Spindle shaped fingers
- Syndactyly of fingers / interdigital palm

- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Generalized obesity