Omphalocele syndrome, Shprintzen-Goldberg type

Orpha code: 3164OMIM code: 182210

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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