Tremor, and Dry skin

Diseases related with Tremor and Dry skin

In the following list you will find some of the most common rare diseases related to Tremor and Dry skin that can help you solving undiagnosed cases.


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 34


Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

SPINOCEREBELLAR ATAXIA TYPE 34 Is also known as erythrokeratodermia with ataxia|sca34|spinocerebellar ataxia and erythrokeratodermia

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 34

Medium match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Medium match DDOST-CDG


DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

DDOST-CDG Is also known as carbohydrate deficient glycoprotein syndrome type ir|congenital disorder of glycosylation type ir|cdg-ir|congenital disorder of glycosylation type 1r|cdg syndrome type ir|cdg1r

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about DDOST-CDG

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Other less relevant matches:

Medium match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Medium match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Medium match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Medium match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Medium match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Medium match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Medium match HYDROXYKYNURENINURIA


Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

HYDROXYKYNURENINURIA Is also known as kynureninase deficiency, partial|kynureninase deficiency|xanthurenic aciduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYDROXYKYNURENINURIA

Top 5 symptoms//phenotypes associated to Tremor and Dry skin

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Tremor and Dry skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Seizures Splenomegaly Hepatomegaly Cataract Sparse hair Microcephaly Failure to thrive Alopecia Nystagmus Hearing impairment Hypogonadism Renal insufficiency Abnormality of the face Intrauterine growth retardation Flexion contracture Neoplasm Nail dystrophy Proteinuria Progeroid facial appearance Hypertension Cutaneous photosensitivity

Rare Symptoms - Less than 30% cases


Abnormality of skin pigmentation Opacification of the corneal stroma Normal pressure hydrocephalus Pigmentary retinopathy Dental malocclusion Loss of facial adipose tissue Cerebral calcification Limitation of joint mobility Polyneuropathy Atypical scarring of skin Decreased lacrimation Severe photosensitivity Carious teeth Brittle hair Hypermetropia Abnormality of the pinna Postnatal growth retardation Elevated hepatic transaminase Osteopenia Delayed eruption of primary teeth Abnormal auditory evoked potentials Increased cellular sensitivity to UV light Irritability Photophobia Hypoplastic iliac wing Vomiting Hypertonia Abnormality of visual evoked potentials Headache Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anorexia Chronic diarrhea Hypoplastic pelvis Alopecia of scalp Anhidrosis Patchy demyelination of subcortical white matter Wide nasal bridge Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Malabsorption Slender nose Decreased nerve conduction velocity Mandibular prognathia Arrhythmia Micropenis Eczema Cognitive impairment Microphthalmia Macular degeneration Small for gestational age Microcornea Asthma Hypotension Facial asymmetry Weight loss Neurological speech impairment Erythema Hyperkeratosis Constipation Babinski sign Gait disturbance Dysarthria Hyperreflexia Growth delay Abnormality of the musculature Skin rash Sensorineural hearing impairment Severe short stature Dry hair Cerebral atrophy Kyphosis Intellectual disability, severe Optic atrophy Erythroderma Cryptorchidism Muscle weakness Neoplasm of the skin Hypoplasia of teeth Pruritus Hypotrichosis Congenital cataract Dermal atrophy Deeply set eye Jerky ocular pursuit movements Decreased fertility Freckling Prominent nasal bridge Congenital ichthyosiform erythroderma Abnormality of hair texture Keratoconjunctivitis sicca Congenital nonbullous ichthyosiform erythroderma Pili torti Abnormality of the hair IgG deficiency Titubation Fragile nails Osteoporosis Tiger tail banding Severe failure to thrive Hypoplasia of the iris Trichorrhexis nodosa Woolly hair Corneal neovascularization Lack of subcutaneous fatty tissue Hyperactive deep tendon reflexes Abnormal heart morphology Abnormal peripheral myelination Leukodystrophy CNS demyelination Menstrual irregularities Severe postnatal growth retardation Large hands Atherosclerosis Knee flexion contracture Peripheral demyelination Chorioretinitis Retinopathy Dementia Hydrocephalus Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Retinal pigment epithelial mottling Thymic hormone decreased Prenatal maternal abnormality Renal tubular acidosis Nonprogressive encephalopathy Breathing dysregulation Stomatitis Abnormality of the respiratory system Renal tubular dysfunction Progressive encephalopathy Congenital sensorineural hearing impairment Encephalopathy Aminoaciduria Stereotypy Coma Metabolic acidosis Tachycardia Jaundice Acidosis Microphakia Hyperphenylalaninemia Subcortical white matter calcifications Spastic diplegia Attention deficit hyperactivity disorder Abnormality of the liver Aggressive behavior Anxiety Autism Hyperactivity Depressivity Nausea Abnormality of cardiovascular system morphology Behavioral abnormality Hypoplasia of the corpus callosum Anteverted nares Motor delay Anemia Cerebellar calcifications Abnormality of the cerebral white matter Delayed myelination Body odor Self-mutilation Folate deficiency Mood changes Abnormal posturing Generalized hypopigmentation Fair hair Blue irides Poor coordination Coarctation of aorta Iron deficiency anemia Scleroderma Hypoplastic left heart Malnutrition Obsessive-compulsive behavior Spontaneous abortion Psychosis Basal cell carcinoma Tongue nodules Squamous cell carcinoma Accelerated skeletal maturation Recurrent ear infections Neurodevelopmental delay Loss of consciousness Abnormality of the coagulation cascade Lipodystrophy CNS hypomyelination Decreased liver function Type I transferrin isoform profile Esotropia Hepatic steatosis Gastroesophageal reflux Generalized hypotonia Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology Primary hypothyroidism Oromotor apraxia Lichenification Conjunctivitis Blepharitis Pustule Poor appetite Steatorrhea Emotional lability Psoriasiform dermatitis Skin ulcer Nephrotic range proteinuria Inflammatory abnormality of the skin Abnormal blistering of the skin Decreased testicular size Lethargy Cerebral cortical atrophy Diarrhea Visual impairment T-cell lymphoma Abnormality of the pleura Corneal erosion Progressive cerebellar ataxia Urticaria Fasciculations Limb ataxia Hypohidrosis Intention tremor Abnormality of the skin Peripheral axonal neuropathy Macule Abnormality of movement Ophthalmoplegia Papule Abnormal pyramidal sign Gait ataxia Hyporeflexia Cerebellar atrophy Dysdiadochokinesis Orthostatic hypotension Gangrene Hepatosplenomegaly Irregular hyperpigmentation Ectropion Thickened skin Lymphoma Palmoplantar keratoderma Lymphadenopathy Immunodeficiency Impaired smooth pursuit Edema Skeletal muscle atrophy Fever Peripheral neuropathy Abnormal facial shape Supranuclear ophthalmoplegia Supranuclear gaze palsy Abnormal eyebrow morphology Furrowed tongue Intestinal obstruction Abnormality of the skull Accessory oral frenulum Broad alveolar ridges Deviation of finger Pancreatic cysts Abnormality of the pancreas Hypoplasia of the zygomatic bone Median cleft lip Hamartoma of tongue Exocrine pancreatic insufficiency Foot polydactyly Tarsal synostosis Milia Open bite Preaxial hand polydactyly Cone-shaped epiphysis Lobulated tongue Lip pit Hand polydactyly Nail dysplasia Abnormality of the thorax Dysphonia Increased bone mineral density Telangiectasia Fine hair Small nail Decreased antibody level in blood Odontogenic neoplasm Ichthyosis Protruding ear Retrognathia Pneumonia Areflexia Recurrent infections Delayed speech and language development Chronic otitis media Coarse hair Ridged nail Low alkaline phosphatase Epicanthus High palate Cleft palate Micrognathia Hypertelorism Increased serum zinc Recurrent candida infections Downslanted palpebral fissures Decreased taste sensation Paronychia Ridged fingernail Glossitis Decreased testosterone in males Impaired T cell function Cheilitis Brachydactyly Frontal bossing Reduced bone mineral density Hypodontia Abnormality of dental enamel Multicystic kidney dysplasia Short toe Choanal atresia Postaxial hand polydactyly Dandy-Walker malformation Underdeveloped nasal alae Finger syndactyly Abnormality of the skeletal system Telecanthus Hydronephrosis Agenesis of corpus callosum Clinodactyly of the 5th finger Dilatation Dystonia Abnormality of the dentition Abnormality of tryptophan metabolism



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Agenesis of corpus callosum, related diseases and genetic alterations Hepatomegaly and Encephalopathy, related diseases and genetic alterations

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