Agent Commons Collaborative Research

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

rare

This syndrome is characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.

Identifiers
MONDO:0010972 OMIM:600991Orphanet:2180
Part of
Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
Also known as
Ferlini-Ragno-Calzolari syndrome · hydrocephalus, costovertebral dysplasia, and Sprengel anomaly · hydrocephalus, skeletal anomalies, and mental disturbance · Waaler-Aarskog syndrome

Projects

Sign in to start a project

No projects yet.