Total 74 clinical symptoms reported for Metaphyseal chondrodysplasia, McKusick type  Very Frequent (41)Occasional (22)Frequent (11)

Abnormal bone ossification	Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.	Very frequent
Abnormal cardiac septum morphology	An anomaly of the intra-atrial or intraventricular septum.   Synonyms:Abnormality of the cardiac septa; Heart septal defect; Septal defects	Very frequent
Abnormal diaphysis morphology	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.   Synonyms:Abnormal shape of shaft of long bone; Abnormality involving the diaphyses of the limbs; Abnormality of shaft of long bone of the limbs; Abnormality of the diaphyses; Anomaly of the limb diaphyses; Anomaly of the limb diaphyses morphology	Very frequent
Abnormal distal phalanx morphology of finger	Any anomaly of distal phalanx of finger.   Synonyms:Abnormal terminal phalanges of the hand; Abnormality of the distal phalanges of the hand; Abnormality of the distal phalanx of finger; Abnormality of the outermost finger bone	Very frequent
Abnormal form of the vertebral bodies	Abnormal morphology of vertebral body.   Synonyms:Abnormally shaped vertebrae	Very frequent
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 retinal pigmentation	Synonyms:Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly	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
Abnormality of the pancreas	An abnormality of the pancreas.   Synonyms:Abnormality of the pancreas	Very frequent
Abnormally ossified vertebrae	An abnormality of the formation and mineralization of one or more vertebrae.   Synonyms:Abnormal bone maturation of vertebra; Abnormal vertebral ossification; Abnormality of ossification/mineralisation of vertebrae	Very frequent
Biconvex vertebral bodies	Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.	Very frequent
Blue sclerae	An abnormal bluish coloration of the sclera.   Synonyms:Blue sclera; Bluish sclerae; Whites of eyes are a bluish-gray color	Very frequent
Bowing of the long bones	A bending or abnormal curvature of a long bone.   Synonyms:Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones	Very frequent
Cardiomyopathy	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.   Synonyms:Disease of the heart muscle	Very frequent
Convex nasal ridge	Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.   Synonyms:Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity	Very frequent
Diaphyseal thickening	Synonyms:Thickening of shaft or central part of long bones	Very frequent
Disproportionate short-limb short stature	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.   Synonyms:Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism	Very frequent
Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.   Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering	Very frequent
High hypermetropia	A severe form of hypermetropia with over +5.00 diopters.   Synonyms:High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness	Very frequent
Hyperlordosis	Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.   Synonyms:Lordosis; Prominent swayback	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
Large face	Synonyms:Big face; Large face; Large facies	Very frequent
Limited elbow extension	Limited ability to straighten the arm at the elbow joint.   Synonyms:Decreased elbow extension; Elbow limited extension; Limitation of elbow extension; Limited elbow extension; Limited extension at elbows; Limited forearm extension; Restricted elbow extension	Very frequent
Mesomelia	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.   Synonyms:Disproportionately short middle portion of limb; Mesomelic limb shortening; Mesomelic shortening of limbs; Symmetric mesomelic limb shortness	Very frequent
Metaphyseal chondrodysplasia	An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.	Very frequent
Metaphyseal dysplasia	The presence of dysplastic regions in metaphyseal regions.	Very frequent
Micromelia	The presence of abnormally small extremities.   Synonyms:Smaller or shorter than typical limbs	Very frequent
Neutropenia	An abnormally low number of neutrophils in the peripheral blood.   Synonyms:Low blood neutrophil count; Low neutrophil count; Peripheral neutropenia	Very frequent
Respiratory insufficiency	Synonyms:Respiratory impairment	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 neck	Diminished length of the neck.   Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck	Very frequent
Short palm	Short palm.   Synonyms:Short palm	Very frequent
Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.	Very frequent
Sparse and thin eyebrow	Decreased density/number and/or decreased diameter of eyebrow hairs.   Synonyms:Sparse and thin eyebrow; Thin, sparse eyebrows	Very frequent
Sparse hair	Reduced density of hairs.   Synonyms:Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth	Very frequent
Spinal dysraphism	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.   Synonyms:Incomplete closure of the vertebral arch	Very frequent
Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.   Synonyms:Cross-eyed; Squint; Squint eyes	Very frequent
Tibial bowing	A bending or abnormal curvature of the tibia.   Synonyms:Bowed shankbone; Bowed shinbone; Bowed tibia; Bowing of the tibia	Very frequent
Tracheal stenosis	Synonyms:Narrowing of windpipe	Very frequent
Visual impairment	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.   Synonyms:Impaired vision; Loss of eyesight; Poor vision; Visual impairment	Very frequent