Total 20 clinical symptoms reported for Rhizomelic chondrodysplasia punctata  Very Frequent (15)Occasional (2)Frequent (3)

Abnormality of epiphysis morphology	An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.   Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality	Very frequent
Abnormality of the dentition	Any abnormality of the teeth.   Synonyms:Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies	Very frequent
Abnormality of the metaphysis	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
Cataract	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.   Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity	Very frequent
Dry skin	Skin characterized by the lack of natural or normal moisture.   Synonyms:Dry skin; Xerosis	Very frequent
Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.   Synonyms:Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds	Very frequent
Epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.   Synonyms:Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses	Very frequent
Growth delay	A deficiency or slowing down of growth pre- and postnatally.   Synonyms:Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth	Very frequent
Ichthyosis	An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.   Synonyms:Ichthyosiform abnormality of the skin; Ichthyotic skin	Very frequent
Limb undergrowth	Limb shortening because of underdevelopment of one or more bones of the extremities.   Synonyms:Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs	Very frequent
Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.   Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference	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
Scoliosis	The presence of an abnormal lateral curvature of the spine.	Very frequent
Short stature	A height below that which is expected according to age and gender 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 gender (or below the 3rd percentile for age and gender dependent norms).   Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile	Very frequent
Sparse body hair	Sparseness of the body hair.   Synonyms:Limited body hair; Little body hair; Sparse body hair; Sparse to absent body hair	Very frequent