Ruvalcaba syndrome

Orpha code: 3121OMIM code: 180870

Definition

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

Disease data
Classification

Malformation syndrome

ORPHA code
3121
OMIM code
180870
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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