Coffin-Lowry Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Coffin-Lowry syndrome describes a complex of symptoms that is genetically determined and manifests itself in physical characteristics, such as a widened nose and enlarged lips, as well as impaired mental development. The syndrome was independently described by the US pediatrician Grange S. Coffin (* 1923) (1966) and RB Lowry (1971) and named after them.
root cause
A change on the X chromosome , a gene in the gene locus Xp22.2-p22.1, could be identified as the cause of this disease . This gene codes for the protein RPS6KA3 (RSK2), which is involved as an enzyme ( kinase ) in nerve cell formation , bone growth, control of the cell cycle and various signal pathways on which cells communicate with each other.
Occur
The Coffin-Lowry syndrome occurs in approximately one in 50,000 newborns, with the male gender being more frequently affected, which can be explained by the location of the disorder on the X chromosome. Affected girls can be symptom-free carriers of traits (i.e. carry the changed gene, but be healthy, carrier ) or show all forms up to the full picture of the disease.
Symptoms
Malformations
- strong forehead and eyebrow arches
- wide bridge of the nose and wide eye relief ( hypertelorism )
- Lid axes run outwards and downwards (antimongoloid position)
- strong nose and everted (forward facing) nasal floor plane
- full lips and everted lower lip
- large, soft hands with loose skin
- Hyperextensible wrists and fingers
- tapering fingers
- Progressive (= progressive) kypho scoliosis (often the greatest complication, as this can restrict breathing and heart activity)
There is also a lot of micrognathia
Mental faculties
- Most of the time, those affected suffer from mental retardation , which, however, can vary in severity.
Further characteristics
Almost a third of the patients also suffer from
- Hearing loss
- cataplectic episodes of falls ( drop attacks ). These patients react to minor stimuli such as a light touch or an unexpected noise with a complete loss of body tension , whereupon they also fall to the ground in severe cases.
- epilepsy
Differential diagnoses
In terms of differential diagnosis, other syndromes must be taken into account, which are initially expressed in similar physical characteristics in order to be able to make a diagnosis as early as possible even in small children. The following can be considered:
- α-Thalassemia - Mental Retardation Syndrome
- Fragile X Syndrome
- Sotos syndrome
- Williams-Beuren Syndrome
- ATR-X syndrome
Indications for diagnosis
- Differential diagnosis in less affected female patients
- Questionable carrier status of mother in affected son
- Prenatal diagnosis if the mother is known to have mutations
