Orphanet: Diaphragmatic defect limb deficiency skull defect syndrome

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Diaphragmatic defect-limb deficiency-skull defect syndrome

Disease definition

Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.

ORPHA:2141

Classification level: Disorder

Synonym(s):
- Froster-Huch syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Antenatal
ICD-10: Q87.8
OMIM: 601163
UMLS: C1832668
MeSH: -
GARD: 2397
MedDRA: -

Summary

Epidemiology

It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple.

Clinical description

The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case).

Antenatal diagnosis

Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies.

Genetic counseling

Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent.

Expert reviewer(s): Dr Juliette ALBUISSON - Last update: March 2006

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Diaphragmatic defect-limb deficiency-skull defect syndrome

ORPHA:2141

Summary

Epidemiology

Clinical description

Antenatal diagnosis

Genetic counseling

A summary on this disease is available in Deutsch (2004) Italiano (2004) Español (2006) Français (2006) Nederlands (2006)

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Further information on this disease

Patient-centred resources for this disease

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