Radioulnar synostosis-developmental delay-hypotonia syndrome

Orpha code: 3270OMIM code: 266255

Definition

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).

Disease data
Classification

Malformation syndrome

Synonyms
Der Kaloustian-McIntosh-Silver syndrome
Zespół Der Kaloustiana, McIntosha i Silvera
ORPHA code
3270
OMIM code
266255
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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