Total 42 clinical symptoms reported for 3M syndrome 2
| Abnormal metaphysis morphology |
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.
Synonyms:Abnormality of the wide portion of a long bone |
Very frequent |
| Anteverted nares |
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).
Synonyms:Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils |
Very frequent |
| Broad forehead |
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.
Synonyms:Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead |
Very frequent |
| Bulbous nose |
Increased volume and globular shape of the anteroinferior aspect of the nose.
Synonyms:Bulbous nose |
Very frequent |
| Delayed skeletal maturation |
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.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
Very frequent |
| Everted lower lip vermilion |
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.
Synonyms:Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip |
Very frequent |
| Frontal bossing |
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Synonyms:Frontal protuberance; Skull bossing |
Very frequent |
| Hypoplastic ischia |
Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
Synonyms:Hypoplastic ischial bones; Hypoplastic ischii; Hypoplastic ischium |
Very frequent |
| Hypoplastic pelvis |
Underdevelopment of the bony pelvis.
Synonyms:Hypoplastic pelvic bones; Small pelvis |
Very frequent |
| Hypoplastic pubic bone |
Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
Synonyms:Hypoplastic pubic bones; Hypoplastic pubis |
Very frequent |
| Increased vertebral height |
Increased top to bottom height of vertebral bodies.
Synonyms:Tall vertebral bodies |
Very frequent |
| Intrauterine growth retardation |
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Synonyms:Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant |
Very frequent |
| Midface retrusion |
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Synonyms:Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface |
Very frequent |
| Rocker bottom foot |
The presence of both a prominent heel and a convex contour of the sole.
Synonyms:Congenital vertical talus; Rocker bottom feet; Rocker bottom foot; Rocker-bottom feet; Rockerbottom feet |
Very frequent |
| Scapular winging |
Abnormal protrusion of the scapula away from the surface of the back.
Synonyms:Scapula alata; Winged scapulae; Winged scapulas; Winged shoulder blade |
Very frequent |
| Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
| Short stature |
A height below that which is expected according to age and sex 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 sex (or below the 3rd percentile for age and sex dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Slender long bone |
Reduced diameter of a long bone.
Synonyms:Gracile long bones; Long bones slender; Slender long bone; Slender, gracile long tubular bones; Thin long bones; Thin, gracile long bones |
Very frequent |
| Thick eyebrow |
Increased density/number and/or increased diameter of eyebrow hairs.
Synonyms:Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows |
Very frequent |
| Triangular face |
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Synonyms:Face with broad temples and narrow chin; Inverted triangular face; Triangular face; Triangular facial shape; Triangular facies |
Very frequent |