Phenotypes associated with the disease lethal congenital contracture syndrome 9 (OMIM:616503):
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. (PMID:26004201)
- 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: PCS. Frequency: 1/4. (PMID:26004201)
- Short umbilical cord (HP:0001196): Decreased length of the umbilical cord. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Muscle fiber atrophy (HP:0100295). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Absence of stomach bubble on fetal sonography (HP:0010963): By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Antecubital pterygium (HP:0009760): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Preeclampsia (HP:0100602): Pregnancy-induced hypertension in association with significant amounts of protein in the urine. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- 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: PCS. Frequency: 1/4. (PMID:26004201)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Abnormality of the diaphragm (HP:0000775): Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:616503)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 2/4. (PMID:26004201)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 3/4. (PMID:26004201)
- Ankylosis (HP:0031013): A reduction of joint mobility resulting from changes involving the articular surfaces. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Axillary pterygium (HP:0001060): Presence of a cutaneous membrane (flap) in the armpit. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Adducted thumb (HP:0001181): In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Elbow extension contracture (HP:0034393): An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 3/4. (PMID:26004201)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Congenital contracture (HP:0002803): One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. Evidence: PCS. (PMID:26004201)
- Wrist flexion contracture (HP:0001239): A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 2/4. (PMID:26004201)
- 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:26004201)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: PCS. Frequency: 4/4. (PMID:26004201)
- Cardiorespiratory arrest (HP:0006543). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/4. (PMID:26004201)
- Thoracic kyphoscoliosis (HP:0005659). Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 1/4. (PMID:26004201)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/4. (PMID:26004201)
- 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: PCS. Frequency: 2/4. (PMID:26004201)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. Frequency: 1/4. (PMID:26004201)