Spasticity, and Eczema

Diseases related with Spasticity and Eczema

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Classical phenylketonuria is a severe form of phenylketonuria (PKU, see this term) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications.

CLASSIC PHENYLKETONURIA Is also known as classic pku

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PHENYLKETONURIA

Other less relevant matches:

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

HOLOCARBOXYLASE SYNTHETASE DEFICIENCY Is also known as multiple carboxylase deficiency, neonatal form|hlcs deficiency|neonatal multiple carboxylase deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD Is also known as sulfocysteinuria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY, ISOLATED; ISOD

Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE (OMIM ) and CblG (Watkins and Rosenblatt, 1988). Most patients present in early infancy, but some patients with CblG have shown later onset (Outteryck et al., 2012). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblE is caused by mutation in the MTRR gene (OMIM ).Watkins and Rosenblatt (1989) commented on the clinical and biochemical heterogeneity in patients with cblE and cblG.

METHYLCOBALAMIN DEFICIENCY TYPE CBLG Is also known as functional methionine synthase deficiency type cblg|methylcobalamin deficiency, cblg type|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type|methionine synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLG

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

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

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Top 5 symptoms//phenotypes associated to Spasticity and Eczema

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Spasticity and Eczema. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Ataxia Vomiting Alopecia Lethargy Failure to thrive Strabismus Hyperammonemia Coma Metabolic acidosis Tremor Feeding difficulties in infancy Acidosis Aciduria Feeding difficulties Muscular hypotonia Organic aciduria Nystagmus Hyperreflexia Hypertelorism Sparse hair Short stature Delayed speech and language development

Rare Symptoms - Less than 30% cases

Nausea and vomiting Intellectual disability, severe Recurrent infections Perioral eczema Diarrhea Abnormality of the dentition Myopathy Myopia Respiratory distress Thrombocytopenia Hearing impairment Flexion contracture Small for gestational age Seborrheic dermatitis Irritability Basal ganglia calcification Dystonia Spastic diplegia Hemiplegia Cataract Cerebellar vermis hypoplasia Attention deficit hyperactivity disorder Fine hair Pes cavus Depressivity Postnatal growth retardation Long face Prominent forehead Lactic acidosis Hypotrichosis Tachypnea Skin rash Inflammatory abnormality of the skin Macrocephaly Hyperventilation Kyphosis Ventriculomegaly Synophrys Desquamation of skin soon after birth Neutropenia Cerebral atrophy Protruding ear Keratoconjunctivitis Nasolacrimal duct obstruction Toenail dysplasia Microphthalmia Cognitive impairment Abnormality of the septum pellucidum Short digit Sleep-wake cycle disturbance Caesarian section Neoplasm Broad chin Prominent coccyx Talipes cavus equinovarus Prominent protruding coccyx Thickened ears Prominent nasal bridge Prominent supraorbital ridges Thickened helices Cerebellar hypoplasia Deeply set eye Thin upper lip vermilion Osteopenia Gastroesophageal reflux Macrotia Proptosis Constipation Autistic behavior Pectus excavatum Long philtrum Cerebellar atrophy Hypoplasia of the corpus callosum Short neck Anteverted nares Dysphagia Anxiety Abnormality of eye movement Gait imbalance Sacral dimple Depressed nasal tip Aplasia cutis congenita Flat occiput Oral-pharyngeal dysphagia Chronic otitis media Delayed gross motor development Reduced tendon reflexes Joint hypermobility Microretrognathia Pointed chin Hip dysplasia Broad nasal tip High, narrow palate Hirsutism Bulbous nose Areflexia Ichthyosis Babinski sign Lack of subcutaneous fatty tissue Skeletal dysplasia Polydactyly Edema Ventricular septal defect Frontal bossing Depressed nasal bridge Tiger tail banding Leukemia Jerky ocular pursuit movements Abnormality of hair texture Titubation Trichorrhexis nodosa Corneal neovascularization Congenital nonbullous ichthyosiform erythroderma Umbilical hernia Generalized tonic-clonic seizures Woolly hair Short 5th metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Abnormality of chromosome segregation Recurrent otitis media Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Mild short stature Foot dorsiflexor weakness Gingival overgrowth Pili torti Progeroid facial appearance Pneumonia Intrauterine growth retardation Cutaneous photosensitivity Small nail Nail dysplasia Decreased antibody level in blood Asthma Microcornea Dry skin Chronic diarrhea Malabsorption Nail dystrophy Photophobia Retrognathia Hyperkeratosis Hypogonadism Abnormality of the face Telangiectasia Fragile nails Decreased fertility IgG deficiency Alopecia of scalp Hyperactive deep tendon reflexes Keratoconjunctivitis sicca Congenital ichthyosiform erythroderma Freckling Basal cell carcinoma Increased bone mineral density Squamous cell carcinoma Intestinal obstruction Erythroderma Abnormality of the thorax Brittle hair Dysphonia Macular degeneration Downslanted palpebral fissures Severe global developmental delay Brachydactyly Hypopigmentation of the skin Wide nasal bridge Decreased plasma carnitine Hyperglycinuria Neutrophilia Encephalomalacia Necrotizing encephalopathy Propionyl-CoA carboxylase deficiency Acute hyperammonemia Dysarthria Behavioral abnormality Autism Mental deterioration Paraplegia Memory impairment Ketoacidosis Cerebral calcification Self-injurious behavior Hypopigmentation of hair Lack of skin elasticity Motor deterioration Hyperphenylalaninemia Sensorineural hearing impairment Muscle weakness Hepatomegaly Optic atrophy Splenomegaly Visual loss Abnormality of the nervous system Apnea Ketonuria Hypoventilation Abnormal cerebellum morphology Achilles tendon contracture Smooth philtrum Thick eyebrow Prominent nose Underdeveloped nasal alae Esotropia Short philtrum Hypotelorism Broad-based gait Progressive microcephaly Narrow face Short chin Brisk reflexes Thick upper lip vermilion Blepharophimosis Opisthotonus Skeletal muscle atrophy Fatigue Telecanthus Congestive heart failure Dilatation Encephalopathy Muscular hypotonia of the trunk Hypoglycemia Elevated hepatic transaminase Elevated serum creatine phosphokinase Hepatic steatosis Cyanosis Dehydration Progressive neurologic deterioration Developmental regression Generalized myoclonic seizures High palate Leukoencephalopathy Anemia Hypertension Peripheral neuropathy Gait disturbance Blindness Renal insufficiency Respiratory failure Pes planus Jaundice EEG abnormality Unsteady gait Generalized-onset seizure Paraparesis Slender finger Increased urinary sulfite Macrocytic anemia Optic neuropathy Poor coordination Megaloblastic anemia Methylmalonic aciduria Homocystinuria Rotary nystagmus Hemolytic-uremic syndrome Hyperhomocystinemia Decreased methylcobalamin Decreased methionine synthase activity Hypomethioninemia Scoliosis Low-set ears Pain Decreased urinary sulfate High myopia Metabolic ketoacidosis Conjunctivitis Recurrent skin infections Urticaria Stridor Visual field defect Infantile spasms Bronchitis Iris hypopigmentation Diffuse cerebral atrophy Alcoholism Recurrent fungal infections Diffuse cerebellar atrophy Laryngeal stridor Decreased biotinidase activity Sulfite oxidase deficiency Weight loss Anorexia Congenital lactic acidosis Motor delay Gait ataxia Delayed eruption of teeth Choreoathetosis Aspiration Infantile muscular hypotonia Ectopia lentis Agitation Restlessness Generalized dystonia Molybdenum cofactor deficiency Short 3rd metacarpal


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Thin skin, related diseases and genetic alterations Microphthalmia and Areflexia, related diseases and genetic alterations Hydrocephalus and Webbed neck, related diseases and genetic alterations Ptosis and Hypertrophic cardiomyopathy, related diseases and genetic alterations