Total 69 clinical symptoms reported for Cutis laxa, X-linked
Abnormal skull morphology |
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Synonyms:Abnormality of the skull |
Very frequent |
Abnormality of the face |
An abnormality of the face.
Synonyms:Abnormal face; Abnormality of the face; Facial abnormality |
Very frequent |
Cerebral calcification |
The presence of calcium deposition within brain structures.
Synonyms:Abnormal deposits of calcium in the brain; Brain calcification; Intracerebral calcifications; Intracranial calcification; Intracranial calcifications |
Very frequent |
Delayed cranial suture closure |
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Synonyms:Broad late closing cranial sutures; Delayed closure of fontanel; Delayed closure of fontanelles; Delayed closure of fontanels; Delayed closure of the fontanelles; Delayed cranial suture closure; Delayed fontanel closure; Delayed fontanelle closure; Late closing fontanelles; Late closure of fontanelle; Late-closing fontanelle; Open sutures |
Very frequent |
Exostoses |
An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Synonyms:Formation of new noncancerous bone on top of existing bone |
Very frequent |
Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
Hyperextensible skin |
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Synonyms:Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
Joint hyperflexibility |
Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
Synonyms:Joints move beyond expected range of motion |
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 |
Specific learning disability |
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
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Very frequent |