Meyer-Schwickerath and Weyers syndrome
Related people
A very rare syndrome marked mainly by ocular abnormalities, craniofacial dysmorphism, dental defects, hand and foot malformations, various skeletal defects, and mildly delayed mental development.
The eye features include microcorneas with of without microphthalmos, fine porous irides, secondary glaucoma, optic atrophy, short palpebral fissures, hypertelorism or hypotelorism, and Adie-Holmes syndrome. The main dental defects are enamel hypoplasia and partial anodontia. Digital anomalies include clinodactyly, camptodactyly, and occasional syndactyly between the fourth and fifth fingers.
Other features include deafness, thin nose with prominent bride, hypotrichosis, cleft lip and palate, widening of the long and short tubular bones, anterior tibial muscle weakness, spastic paraparesis, ataxia, dysarthria, and seizures, and bladder disorders. Usually autosomal dominant inheritance with variable phenotype.
Some authors have Meyer-Schwickerath and Weyers as a synonym for Fraser's syndrome and Ullrich-Feichtiger syndrome. Thes have been entered as separate entities.
See:
Fraser's syndrome, or cryphthalmos syndactyly syndrome, under George Fraser, British human geneticist, born 1932.
Ullrich-Feichtiger syndrome, or micrognathia-polydactyly-genital anomalies syndrome, under Otto Ullrich, German paediatrician, 1894-1957.
Bibliography
- W. Lohmann:
Beitrag zur Kenntnis des reinen Mikrophthalmus.
Archiv für Augenheilkunde, Wiesbaden, 1920; 86: 136-141. - G. Meyer-Schwickerath, E. Grüterich, H. Weyers:
Mikrophthalmus-Syndrome.
Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1957; 131: 18-30. - H. Weyers, G. Meyer-Schwickerath:
Dysplasia oculo-dento-digitalis, ein neues Ektodermal-Syndrom.
Med. Bilddienst, 1959; 2: 157-164. - F. D. Gillespie:
A hereditary syndrome: «dysplasia oculodentodigitalis.»
Archives of Ophthalmology, Chicago, 1964; 71: 187-192.