Phenotypes associated with the disease de Sanctis-Cacchione syndrome (OMIM:278800):
- Bilateral tonic-clonic seizure (HP:0002069): A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- 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: PCS. Frequency: 1/2. (PMID:1372469)
- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: IEA. (OMIM:278800)
- Olivopontocerebellar atrophy (HP:0002542): Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Defective DNA repair after ultraviolet radiation damage (HP:0003079). Evidence: IEA. (OMIM:278800)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Global brain atrophy (HP:0002283): Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Bilateral coxa valga (HP:0010665): The presence of bilateral coxa valga. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Scissor gait (HP:0012407): A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Equinovarus deformity (HP:0008110). Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Axonal degeneration (HP:0040078). Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: IEA. (OMIM:278800)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Leukodystrophy (HP:0002415): Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- 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: PCS. Frequency: 2/2. (PMID:1372469)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: IEA. (OMIM:278800)
- Gonadal hypoplasia (HP:0008639). Evidence: IEA. (OMIM:278800)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Basal ganglia calcification (HP:0002135): The presence of calcium deposition affecting one or more structures of the basal ganglia. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: IEA. (OMIM:278800)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- Choreoathetosis (HP:0001266): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: IEA. (OMIM:278800)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: IEA. (OMIM:278800)
- Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455): 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:1372469)
- 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: PCS. Frequency: 2/2. (PMID:1372469)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:278800)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:278800)
- Peripheral neuropathy (HP:0009830): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:10767341)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 1/2. (PMID:1372469)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/1. (PMID:1372469)
- 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: IEA. (OMIM:278800)
- Entropion (HP:0000621): An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Evidence: IEA. (OMIM:278800)