Total 22 clinical symptoms reported for Chondrodysplasia-pseudohermaphroditism syndrome
| Abnormal pelvic girdle bone morphology |
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Synonyms:Abnormal shape of pelvic girdle bone; Abnormality of pelvic girdle bone morphology |
Very frequent |
| Abnormal shoulder morphology |
An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Synonyms:Abnormality of the shoulder |
Very frequent |
| Broad long bones |
Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
Synonyms:Broad long bones; Wide long bones; Widened long bones |
Very frequent |
| Increased skull ossification |
An increase in the magnitude or amount of ossification of the skull.
Synonyms:Hyperossification of skull; Hyperostosis of skull; Sclerosis of bones of skull; Sclerosis of skull |
Very frequent |
| Intellectual disability |
The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
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 |
| Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
| Microcephaly |
Head circumference below 2 standard deviations below the mean for age and sex.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference |
Very frequent |
| Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
| Narrow chest |
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Synonyms:Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter |
Very frequent |
| Severe short stature |
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe |
Very frequent |
| Short metacarpal |
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Synonyms:Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals |
Very frequent |
| Short phalanx of finger |
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Synonyms:Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges |
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 |