An inherited disorder with abnormalities of the skull and face and the hands and feet.
There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front to back, and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes.
Surgery is often useful with the abnormalities of the skull, face, hands and feet.
The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.
- Syndrome, atypical measles (AMS)
An altered expression of measles, AMS begins suddenly with high fever, headache, cough, and abdominal pain. The rash may appear 1 to 2 days later, often beginning on the limbs. Swelling (edema) of the hands and feet may occur. Pneumonia is common and may persist for 3 months or more. AMS occurs in persons who […]
- Syndrome, autoimmune polyglandular (APS)
replacing the various hormones that are in short supply, giving insulin for the diabetes, treating the yeast infections, etc. However, there is no known cure yet for APS. The prognosis (outlook) depends on whether the critical hormone deficiencies are remedied and especially whether the infections can be successfully controlled. APS goes by a confusing array […]
- Syndrome, Barlow
Barlow syndrome is mitral valve prolapse (also known as “click murmur syndrome”), the most common heart valve abnormality, affecting 5%-10% of the world population. Most patients have no symptoms and require no treatment. However, the condition can be associated with fatigue and/or palpitations. The mitral valve prolapse can often be detected by a doctor during […]
- Syndrome, battered child
an infant’s inconsolable crying, feeding difficulties, a toddler’s failed toilet training, and exaggerated parental perceptions of acts of “disobedience” by the child. Children can be neglected and abused by parents, other caregivers, or society. Child abuse should be reported, investigated and evaluated. The treatment and prevention of child abuse include a support group structure coupled […]
- Syndrome, Bernard
A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidrosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical […]