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acrocephalopolysyndactyly type 2

MIM.201000

Tuesday 29 May 2007

Autosomal recessive malformative disease.

Synopsis

- short stature (@<@25th percentile)
- obesity
- brachycephaly
- midface hypoplasia
- low-set ears
- malformed ears
- preauricular pits
- conductive hearing loss
- sensorineural hearing loss
- epicanthal folds
- corneal opacity
- microcornea
- optic atrophy
- lateral displacement of medial canthi
- flat nasal bridge
- high-arched palate
- missing teeth
- delayed loss of deciduous teeth
- short muscular neck
- atrial septal defect
-  ventricular septal defect
- pulmonic stenosis
- tetralogy of Fallot
- transposition of great vessels
- patent ductus arteriosus
- umbilical hernia
- omphalocele
- accessory spleens
- cryptorchidism
- hydronephrosis
- hydroureter
- craniosynostoses

  • oronal craniosynostosis
  • sagittal craniosynostosis
  • lambdoid sutures craniosynostosis

- pilonidal dimple
- absent coccyx
- spina bifida occulta
- scoliosis
- coxa valga
- decreased hip-joint mobility
- flared ilia
- genu valgum
- lateral displacement of patellae
- brachydactyly
- hand postaxial polydactyly
- clinodactyly
- hand syndactyly
- camptodactyly
- foot preaxial polydactyly
- foot syndactyly
- metatarsus varus
- variable delay (IQ range 52-104)
- precocious puberty

See also

- acrocephalopolysyndactylies