Total 8 clinical symptoms reported for Blepharophimosis - intellectual disability syndrome, MKB type
| Blepharophimosis |
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Synonyms:Decreased width of palpebral fissure; Narrow opening between the eyelids |
Frequent |
| Bulbous nose |
Increased volume and globular shape of the anteroinferior aspect of the nose.
Synonyms:Bulbous nose |
Frequent |
| Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
Frequent |
| Floppy infant |
Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).
Synonyms:Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia |
Frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Frequent |
| Prominent nose |
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Synonyms:Big nose; Disproportionately large nose; Increased nasal size; Increased size of nose; Large nose; Prominent nose; Pronounced nose |
Frequent |
| Thick nasal alae |
Increase in bulk of the ala nasi.
Synonyms:Ala nasi, thick; Thickening of the alae nasi |
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 |
Frequent |