Total 43 clinical symptoms reported for Diastrophic dysplasia
Abnormal clavicle morphology |
Any abnormality of the clavicles (collar bones).
Synonyms:Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle |
Very frequent |
Abnormal form of the vertebral bodies |
Abnormal morphology of vertebral body.
Synonyms:Abnormally shaped vertebrae |
Very frequent |
Abnormal rib morphology |
An anomaly of the rib.
Synonyms:Abnormality of the ribs; Rib abnormalities; Rib anomalies |
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 the metacarpal bones |
An abnormality of the metacarpal bones.
Synonyms:Abnormality of the long bone of hand; Anomaly of the metacarpal bones |
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 |
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 |
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 |
Hypoplastic cervical vertebrae |
Synonyms:Cervical vertebrae hypoplasia; Underdeveloped cervical vertebrae |
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 |
Intrauterine growth retardation |
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Synonyms: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 |
Large earlobe |
Increased volume of the earlobe, that is, abnormally prominent ear lobules.
Synonyms:Fleshy earlobe; Fleshy earlobes; Large earlobe; Prominent ear lobes; prominent ear lobules |
Very frequent |
Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Very frequent |
Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
Midface retrusion |
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Synonyms:Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface |
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 |
Proximal placement of thumb |
Proximal mislocalization of the thumb.
Synonyms:Attachment of thumb close to wrist; Low implantation of the thumb; Low-set thumb; Proximally placed thumbs |
Very frequent |
Scoliosis |
The presence of an abnormal lateral curvature of the spine.
|
Very frequent |
Short finger |
Abnormally short finger associated with developmental hypoplasia.
Synonyms:Hypoplastic digits; Hypoplastic fingers; Hypoplastic/small fingers; Short finger; Stubby finger; Stubby fingers |
Very frequent |
Symphalangism affecting the phalanges of the hand |
Fusion of two or more phalangeal bones of the hand.
Synonyms:Fused finger bones of the hand; Synostosis involving phalanges of the hand |
Very frequent |