Spondyloepiphyseal dysplasia, Maroteaux type

Orpha code: 263482OMIM code: 184095

Definition

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

Disease data
Classification

Disease

Synonyms
Pseudo-Morquio syndrome type 2
Zespół pseudo-Morquio typu 2
ORPHA code
263482
OMIM code
184095
ICD10 code
Q77.7
ICD11 code
LD24.3

No additional description.

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