Carpenter syndrome is characterized by premature fusion of some cranial bones (craniosynostosis), abnormalities of fingers and toes, and other developmental delays and deficiencies. Other names-

  1. ACPS II
  2. acrocephalopolysyndactyly 2
  3. acrocephalopolysyndactyly type II
  4. acrocephalosyndactyly, type II
  5. type II acrocephalosyndactyly

Features

  1. The head gets a pointed appearance (acrocephaly) as the craniocynostosis prevents the skull from growing adequately.
  2. Sometimes a deformity called cloverleaf skull is also seen in children with this syndrome.
  3. Craniofacial asymmetry -The two sides of the head and face can also be different due to the improper fusion of the skill bones.
  4. Facial features – flat nasal bridge, down slanting palpebral fissures ( outside corners of the eyes point downwards), low set ears, underdeveloped jaws,
  5. Dental abnormalities
  6. Vision problems
  7. Anomalies of fingers and toes includes- Intellectual disability, which ranges from mild to profound. Some children may develop near normal intelligence.
    1. Cutaneous Syndactyly- merging of the skin between to fingers or toes. Most commonly seen between the third and fourth fingers.
    2. Brachydactyly – unsusually short fingers and toes
    3. Polydactyly – extra fingers and toes. Seen most frequently next to the second toe or the fifth smallest finger.
  8. Intellectual disability, which ranges from mild to profound. Some children may develop near normal intelligence
  9. Obesity in children, causing the formation of a soft pouch near the belly button.
  10. Hearing loss
  11. Heart defect
  12. Skeletal abnormalities – deformed hips, kyphoscoliosis ( rounded upper back), genu valgum ( knees that are angled inward)
  13. Affected males have genital abnormalities, most frequently cryptorchidism ( descended testes)
  14. Abnormal placement of organs in the chest and organs. Ususally in a mirror image position

Causes

Mutations in the RAB23 or MEGF8 gene located on chromosome 6 causes this syndrome. This mutation is passed in an autosomal recessive pattern, which means that each parent must have the abnormal RAB23 gene, and both must pass it on to their child. When both parents are carriers of this gene, there is 25% chances of their baby to have this syndrome. This makes it a very rare syndrome.

Speech and Language features

Delayed motor development and poor intellectual abilities can cause significant speech and language delay. Auditory impairments also cause deviant speech which might have misarticulations and voice deviancies.

Intervention

This involves cranial surgery as soon as 6-12 months of age. Surgeries to correct the congenital heart defect and the abnormal fingers and toes are also needed. A team approach adopted by a host of professional ranging from craniofacial surgeons to orthodontists and speech pathologists is often the best way ahead.