Total 38 clinical symptoms reported for Camptomelic dysplasia
11 pairs of ribs |
Presence of only 11 pairs of ribs.
Synonyms:11 pairs of ribs |
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 |
Cleft palate |
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Synonyms:Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis |
Very frequent |
Fibular hypoplasia |
Underdevelopment of the fibula.
Synonyms:Hypoplastic fibula; Short calf bone; Short fibula; Short fibulae |
Very frequent |
Flat face |
Absence of concavity or convexity of the face when viewed in profile.
Synonyms:Flat face; Flat facial profile; Flat facial shape; Flat facies |
Very frequent |
Hip dislocation |
Displacement of the femur from its normal location in the hip joint.
Synonyms:Dislocated hips; Dislocation of hip; Hip dislocation |
Very frequent |
Hypoplastic inferior ilia |
This information is currently in development.
|
Very frequent |
Laryngomalacia |
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Synonyms:Softening of voice box tissue |
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 |
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; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; 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 |
Poorly ossified cervical vertebrae |
Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.
|
Very frequent |
Recurrent fractures |
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Synonyms:Frequent fractures; Increased fracture rate; Increased fractures; Multiple fractures; Multiple spontaneous fractures; Recurrent fractures; Varying degree of multiple fractures |
Very frequent |
Respiratory insufficiency |
Synonyms:Respiratory impairment |
Very frequent |
Scoliosis |
The presence of an abnormal lateral curvature of the spine.
|
Very frequent |
Short long bone |
One or more abnormally short long bone.
Synonyms:Long bone shortening; Short long bone; Short tubular bones; shortened long tubular bones |
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 |
Small abnormally formed scapulae |
Synonyms:Small abnormally formed scapula; Small abnormally formed shoulder blade |
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 |
Tracheobronchomalacia |
Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.
|
Very frequent |
Tracheomalacia |
Synonyms:Floppy windpipe |
Very frequent |