Catalog

Shprintzen-Goldberg omphalocele syndrome

No MMS code

Link to WHO Definition

Shprintzen-Goldberg omphalocele syndrome – http://id.who.int/icd/entity/1570235082

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

Parents

LD2F.1 Syndromes with multiple structural anomalies, not of environmental origin
Syndromic conditions with disorders of intellectual development as a relevant clinical feature