Total 37 clinical symptoms reported for Chondrodysplasia Blomstrand type
| Abnormal 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 epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality |
Very frequent |
| Accelerated skeletal maturation |
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Advanced bone age; Early bone maturation; Premature epiphyseal closure; Premature epiphyseal ossification; Premature fusion of the epiphyseal growth plate |
Very frequent |
| Aplastic clavicle |
Absence of the clavicles as a developmental defect.
Synonyms:Absent clavicles; Absent collarbone; Aplastic clavicles |
Very frequent |
| Broad clavicles |
Increased width (cross-sectional diameter) of the clavicles.
Synonyms:Broad collarbone |
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 |
| Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
| Distal shortening of limbs |
Synonyms:Short outer part of limbs |
Very frequent |
| Flared metaphysis |
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Synonyms:Flared wide portion of long bone; Flared, widened metaphyses; marked metaphyseal flaring of long bones; Metaphyseal flaring; Metaphyseal flaring of long bones; Metaphyseal splaying; Metaphyses flared; Splayed metaphyses |
Very frequent |
| Increased bone mineral density |
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Synonyms:Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones |
Very frequent |
| Lethal skeletal dysplasia |
Synonyms:Lethal dwarfism identifiable at birth |
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 |
| Malar flattening |
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Synonyms:Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening |
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 cupping |
Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
|
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; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; 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 |
| 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 |
| Neonatal short-limb short stature |
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Synonyms:Dwarfism, neonatal short-limbed; Neonatal short-limbed dwarfism; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth |
Very frequent |
| Platyspondyly |
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Synonyms:Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies |
Very frequent |
| Polyhydramnios |
The presence of excess amniotic fluid in the uterus during pregnancy.
Synonyms:High levels of amniotic fluid; Hydramnios |
Very frequent |
| Premature birth |
The birth of a baby of less than 37 weeks of gestational age.
Synonyms:Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time |
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 |
| Protuberant abdomen |
A thrusting or bulging out of the abdomen.
Synonyms:Abdominal protuberance; Belly sticks out; Extended belly |
Very frequent |
| Pulmonary hypoplasia |
Synonyms:Hypoplastic lung; Hypoplastic lungs; Lung hypoplasia; Poorly developed lungs; Small lung; Underdeveloped lung |
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 |
| Short nose |
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Synonyms:Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose |
Very frequent |
| Short ribs |
Reduced rib length.
Synonyms:Hypoplastic ribs; Rib hypoplasia; Short ribs |
Very frequent |
| Short thorax |
Reduced inferior to superior extent of the thorax.
Synonyms:Shorter than typical length between neck and abdomen |
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 |