Richieri Costa-da Silva syndrome

Orpha code: 3101OMIM code: 255710

Definition

Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.

Disease data
Classification

Malformation syndrome

Synonyms
Myotonia-intellectual disability-skeletal anomalies syndrome
Miotonia - niepełnosprawność intelektualna - wady szkieletu
ORPHA code
3101
OMIM code
255710
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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