Imperforate oropharynx-costovertebral anomalies syndrome

Orpha code: 2759OMIM code:

Definition

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.

Disease data
Classification

Malformation syndrome

Synonyms
Seghers syndrome
Zespół Seghersa
ORPHA code
2759
OMIM code
-
ICD10 code
Q87.5
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl