Total 53 clinical symptoms reported for Shprintzen-Goldberg syndrome
| Arachnodactyly |
Abnormally long and slender fingers ('spider fingers').
Synonyms:Long slender fingers; Long, slender fingers; Spider fingers |
Very frequent |
| Dolichocephaly |
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.
Synonyms:Long, narrow head; Tall and narrow skull |
Very frequent |
| Downslanted palpebral fissures |
The palpebral fissure inclination is more than two standard deviations below the mean.
Synonyms:Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted |
Very frequent |
| High, narrow palate |
The presence of a high and narrow palate.
Synonyms:Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth |
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 |
| Hypotonia |
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.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
Very frequent |
| Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
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 |
| Micrognathia |
Developmental hypoplasia of the mandible.
Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible |
Very frequent |
| Pes planus |
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Synonyms:Flat feet; Flat foot |
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 |
| Proptosis |
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Synonyms:Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi |
Very frequent |
| Retrognathia |
An abnormality in which the mandible is mislocalised posteriorly.
Synonyms:Lower jaw retrognathia; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Weak chin; Weak jaw |
Very frequent |
| Telecanthus |
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Synonyms:Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance |
Very frequent |