Robin sequence-oligodactyly syndrome

Orpha code: 3104OMIM code: 172880

Definition

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
Classification

Malformation syndrome

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

No additional description.

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