Autosomal recessive Robinow syndrome

Orpha code: 1507OMIM code: 268310

Definition

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

Disease data
Classification

Clinical subtype

Synonyms
COVESDEM syndrome
Defekt segmentacji żebrowo-kręgowej - mezomelia
RRS
Zespół COVESDEM
Costovertebral segmentation defect-mesomelia syndrome
RRS
ORPHA code
1507
OMIM code
268310
ICD10 code
Q87.1
ICD11 code
LD24.A

No additional description.

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