Phenotypes associated with the disease 3M syndrome (ORPHA:2616):
- Everted lower lip vermilion (HP:0000232): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Delayed skeletal maturation (HP:0002750): 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. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Slender long bone (HP:0003100): Reduced diameter of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Hypoplastic pubic bone (HP:0003173): Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Hypoplastic ischia (HP:0003175): Underdevelopment of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Increased vertebral height (HP:0004570): Increased top to bottom height of vertebral bodies. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2616)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Pointed chin (HP:0000307): A marked tapering of the lower face to the chin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Long philtrum (HP:0000343): 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). (ORPHA:2616)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Horizontal ribs (HP:0000888): A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Abnormality of the elbow (HP:0009811): An anomaly of the joint that connects the upper and the lower arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Enlarged thorax (HP:0100625). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Decreased fertility (HP:0000144). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Congenital hip dislocation (HP:0001374). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Abnormal cerebral vascular morphology (HP:0100659): An anomaly of the cerebral blood vessels. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2616)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2616)