Autosomal recessive spondylocostal dysostosis

Orpha code: 2311OMIM code: 616566

Definition

A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

Disease data
Classification

Malformation syndrome

Synonyms
Jarcho-Levin syndrome
Zespół Jarcho i Levina
ORPHA code
2311
OMIM code
616566
ICD10 code
Q76.8
ICD11 code
LD24.H

No additional description.

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