Phenotypes associated with the disease Singleton-Merten syndrome 1 (OMIM:182250):
- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: IEA. (OMIM:182250)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. (OMIM:182250)
- Short stature (HP:0004322): 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: 6/9. (PMID:23322711)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: IEA. (OMIM:182250)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/11. (PMID:23322711)
- Muscle fiber atrophy (HP:0100295). Evidence: IEA. (OMIM:182250)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:182250)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 7/7. (PMID:23322711)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 7/11. (PMID:23322711)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/11. (PMID:23322711)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: IEA. (OMIM:182250)
- Hypoplasia of the tooth germ (HP:0006353): Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. Evidence: IEA. (OMIM:182250)
- Expanded metacarpals with widened medullary cavities (HP:0006232). Evidence: IEA. (OMIM:182250)
- Expanded phalanges with widened medullary cavities (HP:0006112). Evidence: IEA. (OMIM:182250)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: IEA. (OMIM:182250)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:182250)
- Aortic arch calcification (HP:0005303): Calcification, that is, pathological deposition of calcium salts in the arch of aorta. Evidence: IEA. (OMIM:182250)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: IEA. (OMIM:182250)
- High anterior hairline (HP:0009890): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. Evidence: PCS. Frequency: 17/17. (OMIM:182250;PMID:23322711)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: PCS. Frequency: 16/19. (OMIM:182250;PMID:23322711)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:182250)
- Hypoplastic distal radial epiphyses (HP:0006386): Underdevelopment of the distal epiphysis of the radius. Evidence: IEA. (OMIM:182250)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:182250)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25620204)
- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: PCS. Frequency: 3/11. (PMID:23322711)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: PCS. Frequency: 10/11. (PMID:23322711)
- Mitral valve calcification (HP:0004382): Abnormal calcification of the mitral valve. Evidence: IEA. (OMIM:182250)
- Aortic valve calcification (HP:0004380): Deposition of calcium salts in the aortic valve. Evidence: IEA. (OMIM:182250)
- Tendon rupture (HP:0100550): Breakage (tear) of a tendon. Evidence: TAS. (OMIM:182250)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: IEA. (OMIM:182250)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 10/11. (PMID:23322711)
- Hip subluxation (HP:0030043): A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. Evidence: TAS. (OMIM:182250)
- Broad forehead (HP:0000337): 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: PCS. Frequency: 7/7. (PMID:23322711)
- Waddling gait (HP:0002515): 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: IEA. (OMIM:182250)
- 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: 7/7. (PMID:23322711)
- Short dental root (HP:0006336): Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. Evidence: PCS. Frequency: 10/11. (PMID:23322711)
- Subvalvular aortic stenosis (HP:0001682): A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. Evidence: IEA. (OMIM:182250)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/11. (PMID:23322711)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 8/9. (PMID:23322711)
- 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: IEA. (OMIM:182250)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: IEA. (OMIM:182250)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 3/11. (PMID:23322711)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: IEA. (OMIM:182250)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: IEA. (OMIM:182250)
- Shallow acetabular fossae (HP:0003182). Evidence: IEA. (OMIM:182250)
- Joint subluxation (HP:0032153): A partial dislocation of a joint. Evidence: PCS. Frequency: 8/9. (PMID:23322711)
- Eruption failure (HP:0000706): A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. Evidence: IEA. (OMIM:182250)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 7/7. (PMID:23322711)
- Expanded metatarsals with widened medullary cavities (HP:0008102). Evidence: IEA. (OMIM:182250)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: IEA. (OMIM:182250)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:182250)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: IEA. (OMIM:182250)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. Frequency: 5/10. (PMID:23322711)