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Diaphragmatic hernia-short bowel-asplenia syndrome

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Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.

ORPHA:527468

Classification level: Disorder

Source: PubMed ID 28898547

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Antenatal

ICD-10: Q87.8

UMLS: C5681454

A summary on this disease is available in Français, Español, Deutsch, Italiano, Nederlands
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Guidelines
Emergency guidelines
Français (2020.pdf) - Orphanet Urgences
Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.