Omphalocele syndrome, Shprintzen-Goldberg type

Orpha code: 3164OMIM code: 182210

Definition

Shprintzen–Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities.

Disease data
Classification

Malformation syndrome

ORPHA code
3164
OMIM code
182210
ICD10 code
Q79.2
ICD11 code
LD2F.1Y

No additional description.

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