Total 46 clinical symptoms reported for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
| Broad nasal tip |
Increase in width of the nasal tip.
Synonyms:Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose |
Very frequent |
| High forehead |
An abnormally increased height of the forehead.
Synonyms:High forehead |
Very frequent |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
Very frequent |
| Long philtrum |
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.
Synonyms:Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum |
Very frequent |
| Low-set ears |
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.
Synonyms:Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia |
Very frequent |
| Posteriorly rotated ears |
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Synonyms:Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears |
Very frequent |
| Rhizomelia |
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Synonyms:Disproportionately short upper portion of limb; Rhizomelic dwarfism; Rhizomelic limb shortening; Rhizomelic short limbs; Rhizomelic short stature; Rhizomelic shortening; Short stature, rhizomelic; Symmetrical rhizomelic limb shortening |
Very frequent |
| Short foot |
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Synonyms:Hypoplastic feet; Short feet; Short foot; Small feet |
Very frequent |
| Small for gestational age |
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Synonyms:Birth weight less than 10th percentile; Low birth weight; Small for gestational age |
Very frequent |
| Small hand |
Disproportionately small hand.
Synonyms:Disproportionately small hands; Small hand |
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 |