Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

Orpha code: 2180OMIM code: 600991

Definition

A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.

Disease data
Classification

Malformation syndrome

Synonyms
Ferlini-Ragno-Calzolari syndrome
Zespół Ferliniego, Ragno i Calzolari
Zespół Waalera i Aarskoga
Waaler-Aarskog syndrome
ORPHA code
2180
OMIM code
600991
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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