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.
Anophthalmia-Cleft Lip-Palate-Polydactyly Syndrome;
Dyscranio-Pygo-Phalangea Syndrome (German appellation);
Micrognathia-Polydactyly-Genital Anomalies Syndrome; Typhus Degenerativus
This medical condition was described by Otto Ullrich, pediatrician and
H. Feichtiger, a German physician, in 1951.
Rare. Autosomal recessive
inheritance. However, sporadic occurrences have been reported.
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.
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.
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.
Feichtiger H: Ein neuer, typischer, vorwiegend der Akren betreffender
Fehlbildungskomplex. Thesis; Rostock, 1943.
Mazur B, Buszman Z: Ullrich-Feichtiger syndrome in a 3-year-old boy. Pol Tyg Lek
Pfeiffer RA, Slavaykoff H: Is there a syndrome of Ullrich and Feichtiger?
Klin Padiatr 187(2):176, 1975.