- Aortic valve stenosis (HP:0001650, a Human Phenotype Ontology term): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. (OMIM:143095)
- Tibial bowing (HP:0002982, a Human Phenotype Ontology term): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:143095)
- Delayed eruption of teeth (HP:0000684, a Human Phenotype Ontology term): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. (OMIM:143095)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (OMIM:143095)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 15/15. (PMID:18513679;PMID:15215498)
- Flexion contracture (HP:0001371, a Human Phenotype Ontology term): 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: TAS. (OMIM:143095)
- Camptodactyly of finger (HP:0100490, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:143095)
- Joint dislocation (HP:0001373, a Human Phenotype Ontology term): Displacement or malalignment of joints. Evidence: TAS. (OMIM:143095)
- Ulnar bowing (HP:0003031, a Human Phenotype Ontology term): Bending of the diaphysis (shaft) of the ulna. Evidence: TAS. (OMIM:143095)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 9/9. (PMID:15215498)
- Short metacarpal (HP:0010049, a Human Phenotype Ontology term): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. (OMIM:143095)
- Flattened epiphysis (HP:0003071, a Human Phenotype Ontology term): Abnormal flatness (decreased height) of epiphyses. Evidence: TAS. (OMIM:143095)
- Sparse eyebrow (HP:0045075, a Human Phenotype Ontology term): Decreased density/number of eyebrow hairs. Evidence: TAS. (OMIM:143095)
- Tricuspid stenosis (HP:0010446, a Human Phenotype Ontology term): A narrowing of the orifice of the tricuspid valve of the heart. Evidence: TAS. (OMIM:143095)
- Shield chest (HP:0000914, a Human Phenotype Ontology term): A broad chest. Evidence: TAS. (OMIM:143095)
- Fixed elbow flexion (HP:0006471, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:143095)
- Narrow vertebral interpedicular distance (HP:0008450, a Human Phenotype Ontology term): A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. Evidence: TAS. (OMIM:143095)
- Genu recurvatum (HP:0002816, a Human Phenotype Ontology term): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: PCS. Frequency: 3/6. (PMID:18513679)
- Lumbar hyperlordosis (HP:0002938, a Human Phenotype Ontology term): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. (OMIM:143095)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. (OMIM:143095)
- Genu valgum (HP:0002857, a Human Phenotype Ontology term): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:143095)
- Pes planus (HP:0001763, a Human Phenotype Ontology term): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. (OMIM:143095)
- Pulmonic stenosis (HP:0001642, a Human Phenotype Ontology term): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. (OMIM:143095)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/9. (PMID:15215498)
- Spondyloepiphyseal dysplasia (HP:0002655, a Human Phenotype Ontology term): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: TAS. (OMIM:143095)
- Highly arched eyebrow (HP:0002553, a Human Phenotype Ontology term): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:143095)
- Kyphoscoliosis (HP:0002751, a Human Phenotype Ontology term): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. (OMIM:143095)
- Delayed skeletal maturation (HP:0002750, a Human Phenotype Ontology term): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. (OMIM:143095)
- Elbow dislocation (HP:0003042, a Human Phenotype Ontology term): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. (OMIM:143095)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. (OMIM:143095)
- Arthropathy (HP:0003040, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:143095)
- Delayed gross motor development (HP:0002194, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. (OMIM:143095)
- Dislocated radial head (HP:0003083, a Human Phenotype Ontology term): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 6/6. (PMID:18513679)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: TAS. (OMIM:143095)
- Arthralgia (HP:0002829, a Human Phenotype Ontology term): Joint pain. Evidence: TAS. (OMIM:143095)
- Deviation of the 5th finger (HP:0009179, a Human Phenotype Ontology term): Displacement of the 5th finger from its normal position. Evidence: TAS. (OMIM:143095)
- Generalized bone demineralization (HP:0006462, a Human Phenotype Ontology term): A generalized decrease in bone mineral density. Evidence: TAS. (OMIM:143095)
- Multiple carpal ossification centers (HP:0006067, a Human Phenotype Ontology term): A delay in the process of formation and maturation of the epiphysis of one or more long bones. Evidence: TAS. (OMIM:143095)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:15215498)
- Bilateral single transverse palmar creases (HP:0007598, a Human Phenotype Ontology term): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. Evidence: TAS. (OMIM:143095)
- Aortic regurgitation (HP:0001659, a Human Phenotype Ontology term): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. (OMIM:143095)
- Intervertebral space narrowing (HP:0002945, a Human Phenotype Ontology term): Decreased height of the intervertebral disk. Evidence: PCS. Frequency: 9/9. (PMID:15215498)
- Mitral regurgitation (HP:0001653, a Human Phenotype Ontology term): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: TAS. (OMIM:143095)
- Shoulder dislocation (HP:0003834, a Human Phenotype Ontology term): A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. Evidence: TAS. (OMIM:143095)
- Widely spaced teeth (HP:0000687, a Human Phenotype Ontology term): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: TAS. (OMIM:143095)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:18513679)
- Long philtrum (HP:0000343, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:143095)
- Rhizomelia (HP:0008905, a Human Phenotype Ontology term): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. (OMIM:143095)
- Barrel-shaped chest (HP:0001552, a Human Phenotype Ontology term): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: TAS. (OMIM:143095)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. (OMIM:143095)
- Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970, a Human Phenotype Ontology term): Rate of proteoglycan sulfation (sulfotransferase activity) is below the lower limit of normal in cultured fibroblasts. Evidence: PCS. Frequency: 2/2. (PMID:18513679)
- Limited hip extension (HP:0003093, a Human Phenotype Ontology term): Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. Evidence: PCS. Frequency: 9/9. (PMID:15215498)
- Small epiphyses (HP:0010585, a Human Phenotype Ontology term): Reduction in the size or volume of epiphyses. Evidence: PCS. Frequency: 9/9. (PMID:15215498)
- Hypoplasia of the capital femoral epiphysis (HP:0003090, a Human Phenotype Ontology term): Underdevelopment of the proximal epiphysis of the femur. Evidence: TAS. (OMIM:143095)
- Short femoral neck (HP:0100864, a Human Phenotype Ontology term): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. (OMIM:143095)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. (OMIM:143095)
- Microtia (HP:0008551, a Human Phenotype Ontology term): Underdevelopment of the external ear. Evidence: TAS. (OMIM:143095)
- Short distal phalanx of finger (HP:0009882, a Human Phenotype Ontology term): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. (OMIM:143095)
- Broad forehead (HP:0000337, a Human Phenotype Ontology term): Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (OMIM:143095)
- Waddling gait (HP:0002515, a Human Phenotype Ontology term): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: TAS. (OMIM:143095)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. (OMIM:143095)
- Wide intermamillary distance (HP:0006610, a Human Phenotype Ontology term): A larger than usual distance between the left and right nipple. Evidence: TAS. (OMIM:143095)
- Knee dislocation (HP:0004976, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 6/6. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:18513679)
- Short phalanx of finger (HP:0009803, a Human Phenotype Ontology term): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. (OMIM:143095)
- Breech presentation (HP:0001623, a Human Phenotype Ontology term): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: PCS. Frequency: 3/6. (PMID:18513679)
- Irregular vertebral endplates (HP:0003301, a Human Phenotype Ontology term): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: TAS. (OMIM:143095)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 9/9. (PMID:15215498)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): 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: 6/6. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:18513679)
- Hypoplasia of the ulna (HP:0003022, a Human Phenotype Ontology term): Underdevelopment of the ulna. Evidence: TAS. (OMIM:143095)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: TAS. (OMIM:143095)
- Decreased hip abduction (HP:0003184, a Human Phenotype Ontology term): Reduced ability to move the femur outward to the side. Evidence: TAS. (OMIM:143095)
- Pulmonary arterial hypertension (HP:0002092, a Human Phenotype Ontology term): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. (OMIM:143095)
- Kyphosis (HP:0002808, a Human Phenotype Ontology term): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. (OMIM:143095)
- Mitral stenosis (HP:0001718, a Human Phenotype Ontology term): An abnormal narrowing of the orifice of the mitral valve. Evidence: TAS. (OMIM:143095)
- Coronal cleft vertebrae (HP:0003417, a Human Phenotype Ontology term): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. (OMIM:143095)
- Cubitus valgus (HP:0002967, a Human Phenotype Ontology term): Abnormal positioning in which the elbows are turned out. Evidence: TAS. (OMIM:143095)
- Ventricular hypertrophy (HP:0001714, a Human Phenotype Ontology term): Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Evidence: TAS. (OMIM:143095)
These phenotypes are associated with the disease spondyloepiphyseal dysplasia with congenital joint dislocations (OMIM:143095, an entry in Online Mendelian Inheritance in Man).