Total 19 clinical symptoms reported for Hypophosphatasia
Abnormal rib morphology |
An anomaly of the rib.
Synonyms:Abnormality of the ribs; Rib abnormalities; Rib anomalies |
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 |
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 |
Craniosynostosis |
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Synonyms:Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature fontanel closure; Premature suture closure |
Very frequent |
Emphysema |
Synonyms:Pulmonary emphysema |
Very frequent |
Failure to thrive in infancy |
Synonyms:Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy |
Very frequent |
Feeding difficulties in infancy |
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
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Very frequent |
Large fontanelles |
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Synonyms:Enlarged fontanelles; Large fontanel; Large fontanelle; Large fontanels; Persistent wide fontanel; Wide fontanelles |
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 |
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 |
Skin dimple |
Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.
Synonyms:Skin dimples |
Very frequent |
Skin dimple over apex of long bone angulation |
This information is currently in development.
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Very frequent |