Adams-Oliver Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.2 | Congenital malformation syndromes with predominant involvement of the extremities |
| ICD-10 online (WHO version 2019) | |
The Adams-Oliver syndrome is a rare autosomal dominant hereditary disease . It is characterized by peculiarities in the area of the skull and the extremities . The severity of the individual symptoms can vary greatly in affected people.
Symptoms
The following can occur in detail:
Symptoms in the head area
- localized hypotrichosis (except scalp)
- Ossification disorder of the skull
- Porencephaly / Schizencephaly
associated with aplasia cutis congenita
Disturbances of the CNS function and visual system
- abnormal EEG
- mental / psycho-motoric retardation
- muscular hypertension / rigidity / spasticity
- epilepsy
- Encephalocele / exencephaly
- Hemiplegia / hemiparesis
- Strabismus (squint)
- Microphthalmia
- Malformation of the optic nerve and the optic nerve papilla
Changes in the limbs
- Malformation of the metacarpal
- Malformation of the middle frog / cleft hand
- uneven length / shape of fingers
- Syndactyly of the fingers
- short hands / brachydactyly
- small or missing fingernails
- short toe / brachydactyly of the toes
- Arches foot
- Clubfoot / bent foot
- small or missing toenails
Others
- congenital heart disease
- Malformation of the cardiac septum
- Fallot tetralogy
- Surplus / accessory nipples ( nipples )
- Prematurity
- Cutis marmorata telangiectatica congenita
literature
- FM Adams, CP Oliver: Hereditary deformities in man due to arrested development. In: J. Hered. 1945, 36, pp. 3-7.
