small shallow orbits, mild maxillary hypoplasia, narrow palate, small spherical crystalline lenses, myopia with or without glaucoma, frequent ectopia lentis, occasional blindness, malformed and malaligned teeth, and cardiac defect. Late ossification of the epiphyses is a constant feature.
Inheritance is autosomal recessive. The disorder may occur in siblings, and has been seen in offspring after the marriage of second cousins. Of the 16 cases reported, 11 were females. Age of onset ranged from 9 months to 13 years.
In 1932 Georges Weill reported eight patients with dislocation of the lens and other dysmorphic features. Several of these persons had arachnodactyly and were regarded as having the Marfan syndrome, but two were of stunted stature with short, stiff digits.
In 1939 Marchesani documented a boy aged eight years and three siblings in another family, all of whom had ectopia lentis. He recognised that although ectopia lentis was a feature of the Marfan syndrome, the patients whom he had studied had short fingers rather than arachnodactyly. He emphasised this point by including comparative photographs in his article, in which he termed the disorder "brachydactyly and congenital spherophakia".
The condition was first named for Marchesani, but when Weill's earlier report was recognised, the conjoined eponym came into general use.
Marchesani had commented on parental consanguinity in one of the families that he had reported, and he had also noted that the parents had short stature. It therefore seemed likely that the condition was inherited as an autosomal recessive trait with minor manifestations in obligatory heterozygotes. In 1955, Kloepfer and Rosenthal published an account of a large affected kindred in Louisiana and confirmed that obligate heterozygotes had stunted stature.
The Weill-Marchesani syndrome is comparatively common in the Amish religious isolate of the USA, and McGavic in 1966 suggested the overall short stature of this group might be a reflection of the large number of heterozygotes in this community.
- G. Weill:
Ectopie des cristallins et malformations générales.
Annales d’oculistique, Paris, 1932, 169: 21-44.
- O. Marchesani:
Brachydaktylie und angeborene Kugellinse als Systemerkrankung.
Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1939, 103: 392-406.
- H. W. Kloepfer, S. W. Rosenthal:
Possible genetic Carriers in the spherophakia-brachymorphia syndrome.
American Journal of Human Genetics, Chicago, 1955, 7: 398-425.
- J. S. McGavic:
Weill-Marchesani syndrome: brachymorphism and ectopia lentis.
American Journal of Ophthalmology, Chicago, 1966, 62: 820-823.