Ullrich-Feichtiger Syndrome

At a glance

A congenital syndrome characterized by an association of micrognathia, ocular, dental, and genital malformations. Other features include deafness, rudimentary toes, clubfoot, partial atresia of the anus, hypospadias, and mask-like facies. A number of authors have suggested that this syndrome is a variant of Smith-Lemli-Opitz Syndrome.

Synonyms

Anophthalmia-Cleft Lip-Palate-Polydactyly Syn­drome; Dyscranio-Pygo-Phalangea Syndrome (German appella­tion); Micrognathia-Polydactyly-Genital Anomalies Syndrome; Typus Degenerativus Rostockiensis.

History

This medical condition was described by Otto Ullrich, pediatrician and H. Feichtiger, a German physician, in 1951.

Incidence

The incidence and prevalence remain unknown. It is very rare disease.

Genetic inheritance

Autosomal recessive inheritance. However, sporadic occurrences have been reported.

Clinical aspects

Can include facial (micrognathia, dental and ocular malformations, cleft palate), genital (hypospadias), cardiac (congenital cardiac defects), and skeletal anomalies (polydactyly, clubfoot). Renal aplasia could be present.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation may be difficult because of micrognathia, dental malformations, and the presence of a cleft palate. Preoperative evaluation should include clinical examination, radiographs, and fiberoptic intubation, if necessary. Nondepolarizing agents should not be used before the airway is secured and lung ventilation has been confirmed. Evaluate the cardiac function (clinical, echocardiography) and consider the use of prophylactic antibiotics when indicated.

Other condition to be considered

• ☞Smith-Lemli-Opitz Syndrome: Characterized by the absence of 7-dehydrocholesterol reductase. It affects the central nervous system (white matter), and leads to growth retardation, developmental delay, microcephaly, micrognathia, cleft palate, severe dysphagia, cataracts, ptosis, polysyndactyly, and syndactyly of the second and third toes. Congenital heart defects (often transposition of the great vessels) have been reported. Congestive heart failure and liver failure are not uncommon.

References