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Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies(FARIMPD)

MedGen UID:
1794225
Concept ID:
C5562015
Disease or Syndrome
Synonyms: FARIMPD; FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
 
Gene (location): ATP1A2 (1q23.2)
 
Monarch Initiative: MONDO:0859204
OMIM®: 619602

Definition

Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (FARIMPD) is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency at birth requiring ventilation and significant dysmorphic facial features; seizures may also occur. Brain imaging shows variable malformations of cortical development, most commonly polymicrogyria or other gyral anomalies. Death in infancy usually occurs (summary by Monteiro et al., 2020). [from OMIM]

Clinical features

From HPO
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Abnormal cortical gyration
MedGen UID:
343457
Concept ID:
C1856019
Anatomical Abnormality
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Aplasia/Hypoplasia of the pyramidal tract
MedGen UID:
870457
Concept ID:
C4024903
Finding
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Fetal akinesia deformation sequence 1
MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).

Recent clinical studies

Diagnosis

Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, Saitsu H
Am J Med Genet A 2024 Mar;194(3):e63453. Epub 2023 Oct 23 doi: 10.1002/ajmg.a.63453. PMID: 37870493

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