Ullrich-Feichtiger syndrome

 (Fraser's syndrome)

Ullrich-Feichtiger syndrome

An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, urogenital malformations, syndactyly, decreased number of digits and bilateral or unilateral renal dysplasia. Other features include alterations of the nose, ears, larynx, oral clefts, umbilical hernia, renal agenesis. A small number of cases consist of only acrofacial and urogenital malformations without cryptophthalmos. Also skeletal anomalies and mental retardation. Both sexes affected. Occasionally, stillborn. Inheritance is autosomal recessive. An unusual proportion of infants is born to consanguineous parents.

More details: 📖 Genetics: Analysis and Principles 6th Edition

Otto Ullrich (1894-1957), German paediatrician.

Otto Ullrich

One of the founders of clinical genetics in Germany making contributions to syndromic delineation and dysmorphology. Eponymously remembered for his description of Ullrich-Turner syndrome (1930).

References

O. Ulrich: Congenital, atonisch-sklerotische Muskeldystrophie. Monatsschrift Kinderheilkunde, Berlin, 1930, 47: 502-510.

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the same sibship: thanatophoric dwarfism and ullrich-feichtiger syndrome. Helv

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6: Warburg M, Fogh-Andersen P. Meckel's syndrom [Meckel's syndrome. Gruber's

syndrome, Ullrich-Feichtiger's syndrome, dysencephalia splachnocystica, type

Rostockiensis, dyscranio-pygophalangia]. Ugeskr Laeger. 1975 Jul

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malformative syndromes possibly unifiable: Ullrich-Feichtiger and Smith-Lemli-

Opitz syndromes. Case report]. Minerva Pediatr. 1969 Jan 14;21(2):56-61.

Italian. PMID: 4388355.