Adams–Oliver syndrome
The Adams -Oliver syndrome is a very rare autosomal dominant inherited disease. It is characterized by special features in the area of the skull and the extremities. The severity of the individual symptoms can vary considerably among affected people.
Symptoms
Specifically, can occur:
Symptoms in the head
- Localized hypotrichosis (except scalp)
- Ossification of the skull
- Porencephaly / Schizencephaly
Disorders of the CNS function and visual system
- Striking EEG
- Mental / psychomotor retardation
- Muscular hypertonia / rigidity / spasticity
- Epilepsy
- Encephalocele / exencephaly
- Hemiplegia / hemiparesis
- Strabismus ( squint)
- Microphthalmia
- Malformation of the optic nerve and papilla of the optic nerve
Changes of the limbs
- Deformity of the metacarpal
- Malformation of the central beam / cleft hand
- Uneven length / shape of the fingers
- Syndactyly of fingers
- Short hands / brachydactyly
- Small or missing fingernails
- Short foot / brachydactyly of toes
- Cavus Foot
- Clubfoot / Foldaway Base
- Small or missing toenails
Other
- Congenital heart disease
- Malformation of cardiac septum
- Tetralogy of Fallot
- Surplus / accessory nipples ( nipples )
- Prematurity