Marshall-Smith syndrome

Orpha code: 561OMIM code: 602535

Definition

A rare genetic multiple congenital anomalies syndrome characterized by abnormal bone maturation with skeletal anomalies, airway obstructions, failure to thrive, developmental delay, moderate to severe intellectual disability and characteristic facial features with macrocephaly, prominent forehead, shallow orbits, proptosis and blue sclerae.

Disease data
Classification

Malformation syndrome

Synonyms
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
Zespół zaawansowanego wieku kostnego, dysmorfii twarzy i niedoboru wzrostu i masy ciała
ORPHA code
561
OMIM code
602535
ICD10 code
Q87.3
ICD11 code
LD2C

No additional description.

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