Robin sequence-oligodactyly syndrome

Orpha code: 3104OMIM code: 172880

Definicja

Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Pierre Robin sequence-oligodactyly syndrome
Sekwencja Pierre'a Robina - oligodaktylia
Kod ORPHA
3104
Kod OMIM
172880
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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