Phenotypes associated with the disease fetal akinesia deformation sequence 3 (OMIM:618389):
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. (PMID:19261599)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: PCS. (PMID:19261599)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: PCS. (PMID:19261599)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. (PMID:19261599)
- Generalized edema (HP:0007430): Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: PCS. (PMID:19261599)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:19261599)
- Fetal akinesia sequence (HP:0001989): 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). Evidence: PCS. (PMID:19261599)
- Overlapping fingers (HP:0010557): A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. Evidence: PCS. (PMID:19261599)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. (PMID:19261599)