Fetal akinesia deformation sequence

Orpha code: 994OMIM code: 618389

Definition

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

Disease data
Classification

Malformation syndrome

Synonyms
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
Artrogrypoza - hipoplazja płuc
FADS
Zespół Pena i Shokeira typu 1
FADS
Pena-Shokeir syndrome type 1
ORPHA code
994
OMIM code
618389
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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