Phenotypes associated with the disease lethal multiple pterygium syndrome (OMIM:253290):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:253290)
- Malignant hyperthermia (HP:0002047): Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. Evidence: IEA. (OMIM:253290)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:253290)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: IEA. (OMIM:253290)
- Joint dislocation (HP:0001373): Displacement or malalignment of joints. Evidence: IEA. (OMIM:253290)
- Short finger (HP:0009381): Abnormally short finger associated with developmental hypoplasia. Evidence: IEA. (OMIM:253290)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: IEA. (OMIM:253290)
- Abnormal cervical curvature (HP:0005905): The presence of an abnormal curvature of the cervical vertebral column. Evidence: IEA. (OMIM:253290)
- 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: IEA. (OMIM:253290)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: IEA. (OMIM:253290)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: IEA. (OMIM:253290)
- Hypoplastic ventricle (HP:0001961): A congenital defect characterized by underdevelopment of a ventricle of the heart. Evidence: IEA. (OMIM:253290)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: IEA. (OMIM:253290)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: IEA. (OMIM:253290)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:253290)
- Multiple pterygia (HP:0001040). Evidence: IEA. (OMIM:253290)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: IEA. (OMIM:253290)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: IEA. (OMIM:253290)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: IEA. (OMIM:253290)
- 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: TAS. (OMIM:253290)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:253290)
- Akinesia (HP:0002304): Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. Evidence: IEA. (OMIM:253290)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: IEA. (OMIM:253290)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:253290)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:253290)
- Amyoplasia (HP:0003634): Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. Evidence: IEA. (OMIM:253290)