Total 90 clinical symptoms reported for Trichothiodystrophy  Occasional (90)

Abnormal pyramidal sign	Functional neurological abnormalities related to dysfunction of the pyramidal tract.   Synonyms:Corticospinal signs; Pyramidal signs; Pyramidal tract signs	Occasional
Abnormality of prenatal development or birth	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.   Synonyms:Abnormality of prenatal development or birth	Occasional
Absence of subcutaneous fat	Lack of subcutaneous adipose tissue.   Synonyms:Absent fat below the skin; General absence of subcutaneous fat; Lack of fatty tissue below the skin	Occasional
Alopecia of scalp	Synonyms:Pathologic hair loss from scalp; Scalp hair loss	Occasional
Anemia	A reduction in erythrocytes volume or hemoglobin concentration.   Synonyms:Anaemia; Low number of red blood cells or hemoglobin	Occasional
Aplasia/Hypoplasia of the nails	Aplasia or developmental hypoplasia of the nail.   Synonyms:Absent/hypoplastic nails; Absent/small nails; Absent/underdeveloped nails; Nail aplasia/hypoplasia	Occasional
Astigmatism	A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.   Synonyms:Abnormal curving of the cornea or lens of the eye; Astigmatism	Occasional
Bilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of both eyes.   Synonyms:Abnormally small eyeball on both sides; Microphthalmia, bilateral	Occasional
Bilateral sensorineural hearing impairment	A bilateral form of sensorineural hearing impairment.   Synonyms:Bilateral nerve deafness; Bilateral sensorineural deafness; Bilateral sensorineural hearing loss; Hearing loss, sensorineural, bilateral	Occasional
Bird-like facies	Synonyms:Bird-like facial appearance	Occasional
Brittle hair	Fragile, easily breakable hair, i.e., with reduced tensile strength.   Synonyms:Brittle hair	Occasional
Bronchospasm	A spasm (sudden, involuntary constriction) of the bronchioles.	Occasional
Cardiomyopathy	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.   Synonyms:Disease of the heart muscle	Occasional
Carious teeth	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.   Synonyms:Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay	Occasional
Cerebral cortical atrophy	Atrophy of the cortex of the cerebrum.   Synonyms:Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells	Occasional
Cerebral dysmyelination	Defective structure and function of myelin sheaths of the white matter of the brain.   Synonyms:Areas of dysmyelination on MRI; Dysmyelination of the brain	Occasional
Clubbing	Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.   Synonyms:Clubbing of fingers and toes; Digital clubbing	Occasional
Coarse facial features	Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.   Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies	Occasional
Concave nail	The natural longitudinal (posterodistal) convex arch is not present or is inverted.   Synonyms:Koilonychia; Spoon-shaped nails	Occasional
Congenital exfoliative erythroderma	This information is currently in development.	Occasional
Conjunctivitis	Inflammation of the conjunctiva.   Synonyms:Pink eye	Occasional
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	Occasional
Cryptorchidism	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.   Synonyms:Cryptorchism; Undescended testes; Undescended testis	Occasional
Cutaneous photosensitivity	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.   Synonyms:Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity	Occasional
Delayed skeletal maturation	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.   Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation	Occasional
Developmental cataract	A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.   Synonyms:Bilateral congenital cataracts; Cataract, congenital; Clouding of the lens of the eye at birth; Congenital cataract; Congenital cataracts; Congenital cataracts, bilateral	Occasional
Diffuse cerebellar atrophy	Diffuse unlocalised atrophy affecting the cerebellum.	Occasional
Dry skin	Skin characterized by the lack of natural or normal moisture.   Synonyms:Dry skin; Xerosis	Occasional
Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.   Synonyms:Difficulty articulating speech; Dysarthric speech	Occasional
Dysphonia	An impairment in the ability to produce voice sounds.   Synonyms:Inability to produce voice sounds; Voice change	Occasional
Dystrophic fingernails	The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.   Synonyms:Poor fingernail formation	Occasional
Ectropion	An outward turning (eversion) or rotation of the eyelid margin.   Synonyms:Eyelid turned out	Occasional
Eczema	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.   Synonyms:Eczema	Occasional
Enamel hypoplasia	Developmental hypoplasia of the dental enamel.   Synonyms:Dental enamel hypoplasia; Enamel hypoplasia; Enamel hypotrophy; Enamel, underdeveloped; Hypoplasia of dental enamel; Hypoplasia of tooth enamel; Underdeveloped teeth enamel	Occasional
Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.   Synonyms:Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds	Occasional
Esotropia	A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.   Synonyms:Inward turning cross eyed	Occasional
Fragile nails	Nails that easily break.   Synonyms:Brittle nails	Occasional
Gait ataxia	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.   Synonyms:Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking	Occasional
Generalized hyperreflexia	This information is currently in development.	Occasional
Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).   Synonyms:Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized	Occasional
Generalized-onset seizure	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.   Synonyms:Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure	Occasional
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	Occasional
Gonadal dysgenesis	Synonyms:Mixed gonadal dysgenesis; Pure gonadal dysgenesis	Occasional
High, narrow palate	The presence of a high and narrow palate.   Synonyms:Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth	Occasional
Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).   Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance	Occasional
Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.   Synonyms:Hypertonicity; Increased muscle tone	Occasional
Hypoplasia of mandible relative to maxilla	Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).   Synonyms:Disorder of mandibular and maxillary dental arch relationship	Occasional
Hyporeflexia	Reduction of neurologic reflexes such as the knee-jerk reaction.   Synonyms:Decreased reflex response; Decreased reflexes	Occasional
Hypotelorism	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).   Synonyms:Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism	Occasional
Ichthyosis	An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.   Synonyms:Ichthyosiform abnormality of the skin; Ichthyotic skin	Occasional
Impaired social reciprocity	A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.	Occasional
Increased bone mineral density	An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.   Synonyms:Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones	Occasional
Increased mean corpuscular hemoglobin concentration	An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).   Synonyms:Increased MCH; Increased MCHC; Increased mean corpuscular Hb concentration	Occasional
Intention tremor	A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).	Occasional
Intrauterine growth retardation	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.   Synonyms:In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant	Occasional
Joint dislocation	Displacement or malalignment of joints.   Synonyms:Joint dislocation; Joint dislocations	Occasional
Keratoconjunctivitis sicca	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.   Synonyms:Dry eyes; Keratitis sicca; Xerophthalmia	Occasional
Low-set nipples	Placement of the nipples at a lower than normal location.   Synonyms:Low-set nipples	Occasional
Macular degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.   Synonyms:Pigmented macular degeneration	Occasional
Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.   Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference	Occasional
Microcornea	A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.   Synonyms:Cornea of eye less than 10mm in diameter; Decreased corneal diameter	Occasional
Multiple joint contractures	This information is currently in development.	Occasional
Myopia	An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.   Synonyms:Close sighted; Near sighted; Near sightedness; Nearsightedness	Occasional
Neutropenia	An abnormally low number of neutrophils in the peripheral blood.   Synonyms:Low blood neutrophil count; Low neutrophil count; Peripheral neutropenia	Occasional
Numerous pigmented freckles	Synonyms:Numerous pigmented freckles	Occasional
Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.   Synonyms:Involuntary, rapid, rhythmic eye movements	Occasional
Osteopenia	Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.   Synonyms:Generalized osteopenia	Occasional
Paraplegia/paraparesis	Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.	Occasional
Partial agenesis of the corpus callosum	A partial failure of the development of the corpus callosum.   Synonyms:Corpus callosum agenesis, partial; Partial agenesis of corpus callosum; Partial corpus callosum agenesis; Partial or complete agenesis of corpus callosum; Partial to complete agenesis of corpus callosum; Partial-total agenesis of corpus callosum	Occasional
Peripheral neuropathy	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.   Synonyms:Peripheral nerve damage; Peripheral neuritis	Occasional
Periventricular leukomalacia	Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.   Synonyms:PVL	Occasional
Photophobia	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.   Synonyms:Extreme sensitivity of the eyes to light; Light hypersensitivity	Occasional
Prematurely aged appearance	Synonyms:Precociously senile appearance; Prematurely aged appearance	Occasional
Protruding ear	Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).   Synonyms:Prominent ear; Prominent ears	Occasional
Psychomotor retardation	Synonyms:Motormental retardation; Psychomotor impairment; Psychomotor slowing	Occasional
Recurrent bronchopulmonary infections	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.	Occasional
Recurrent infections	Increased susceptibility to infections.   Synonyms:Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection	Occasional
Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.   Synonyms:Retina degeneration	Occasional
Retrognathia	An abnormality in which the mandible is mislocalised posteriorly.   Synonyms:Lower jaw retrognathia; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Weak chin; Weak jaw	Occasional
Ridged nail	Longitudinal, linear prominences in the nail plate.   Synonyms:Grooved nails; Longitudinal ridging; Nail ridging	Occasional
Sparse scalp hair	Decreased number of hairs per unit area of skin of the scalp.   Synonyms:Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair	Occasional
Spasticity	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.   Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity	Occasional
Split nail	A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.   Synonyms:Longitudinal splitting of nail	Occasional
Squamous cell carcinoma	The presence of squamous cell carcinoma of the skin.	Occasional
Strabismus	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.   Synonyms:Cross-eyed; Squint; Squint eyes	Occasional
Thoracic kyphosis	Over curvature of the thoracic region, leading to a round back or if sever to a hump.   Synonyms:Accentuated thoracic kyphosis; Exaggerated thoracic kyphosis	Occasional
Tiger tail banding	An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.   Synonyms:Tiger tail banding; Tiger-tail banding	Occasional
Umbilical hernia	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.   Synonyms:Umbilical hernias	Occasional
Ventricular septal defect	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.   Synonyms:Hole in heart wall separating two lower heart chambers; Ventricular septal defects; Ventriculoseptal defect; VSD	Occasional
Ventriculomegaly	An increase in size of the ventricular system of the brain.   Synonyms:Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation	Occasional