Phenotypes associated with the disease Encephalocraniocutaneous lipomatosis (ORPHA:2396):
- Hypertonia (HP:0001276): A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Absent septum pellucidum (HP:0001331): Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Tricuspid valve prolapse (HP:0001704): One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Cerebral cortical atrophy (HP:0002120): Atrophy of the cortex of the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Mutism (HP:0002300): Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Muscle stiffness (HP:0003552): A condition in which muscles cannot be moved quickly without accompanying pain or spasm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Craniofacial hyperostosis (HP:0004493): Excessive growth of the craniofacial bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Capillary hemangioma (HP:0005306): The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Echolalia (HP:0010529): Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Neoplasm of the skeletal system (HP:0010622): A tumor (abnormal growth of tissue) of the skeleton. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Bone cyst (HP:0012062): A fluid filled cavity that develops with a bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Subcortical cerebral atrophy (HP:0012157): Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Visceral angiomatosis (HP:0100761). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Dysostosis multiplex (HP:0000943). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Abnormal aortic morphology (HP:0001679): An abnormality of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Hemiplegia (HP:0002301): Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Tetraplegia (HP:0002445): Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Abnormal cartilage morphology (HP:0002763): Any morphological abnormality of cartilage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Retinopathy (HP:0000488): Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Multiple lipomas (HP:0001012): The presence of multiple lipomas (a type of benign tissue made of fatty tissue). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Global developmental delay (HP:0001263): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Neurodevelopmental abnormality (HP:0012759): A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2396)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Abnormal eyelid morphology (HP:0000492): An abnormality of the eyelids. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Abnormal eyelash morphology (HP:0000499): An abnormality of the eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Abnormal nasolacrimal system morphology (HP:0000614): An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Nevus flammeus (HP:0001052): A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Agenesis of corpus callosum (HP:0001274): Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2396)
- Paralysis (HP:0003470): Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Interrupted aortic arch (HP:0011611): Non-continuity of the arch of aorta with an atretic point or absent segment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)
- Osteochondrosis (HP:0040188): Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2396)