Marshall syndrome

Orpha code: 560OMIM code: 154780

Definition

A malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Disease data
Classification

Malformation syndrome

ORPHA code
560
OMIM code
154780
ICD10 code
Q87.0
ICD11 code
LD27.0Y

No additional description.

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