Pallister W syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified [1] |
| ICD-10 online (WHO version 2019) | |
As Pallister-W syndrome is a suspected X-linked recessive dysmorphic syndrome called. The affected people show a combination of symptoms of cleft face, facial dysmorphism and peculiarities of the extremities.
The first description was made in 1974 by the American paediatricians and human geneticists Pallister from Madison and Minneapolis , among others , using a family whose first letter is the name of the family.
It is a very rare syndrome: so far there have only been three observations, the variability of the clinical picture is therefore not yet sufficiently known. Further observations are necessary for the formal genetic assurance of the assumed mode of inheritance. Pallister W syndrome is probably not always recognized as a nosological unit.
Diagnostic criteria
- cognitive disability
- possibly tremor and slight spasticity
- Median cleft formation in the palate and possibly the upper lip
-
Facial dysmorphism
- high accentuated forehead
- ocular hypertelorism (Telekantus)
- Lid axis sloping downwards outwards
- wide and flat bridge of the nose
- flat upper jaw
- Special features in the area of the extremities , etc. a. Cubitus valgus , shortening of the ulna , curvature of the radius , camptodactyly
etiology
The etiology of Pallister W syndrome is not known for certain. The occurrence of siblings in two brothers indicates a sex-linked inheritance, but does not rule out autosomal inheritance. The low severity of the findings in the boys' mother and sister allows for a dominant gene effect with variable gene expression or gender limitation.
Pathogenesis
The pathogenesis of Pallister W syndrome is so far unknown.
literature
- Armand Bottani, Albert Schinzel: A third patient with median cleft upper lip, mental retardation and pugilistic facies (W-Syndrome) corroboration of a hitherto private syndrome. In: Clinical Dysmorphology , Vol. 2 (1993), No. 3, pp. 225-231, ISSN 0962-8827
