Flexion contracture, and Pallor

Diseases related with Flexion contracture and Pallor

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

Top matches:

Related symptoms:

  • Pain
  • Myopathy
  • Pallor
  • Scarring
  • Myocardial fibrosis


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI

Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy ,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F Is also known as lgmd1f|muscular dystrophy, limb-girdle, type 1f

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1F

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Other less relevant matches:

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.

CEREBROTENDINOUS XANTHOMATOSIS Is also known as cerebral cholesterinosis|sterol 27-hydroxylase deficiency|ctx

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEREBROTENDINOUS XANTHOMATOSIS

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Top 5 symptoms//phenotypes associated to Flexion contracture and Pallor

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Nystagmus Ataxia Failure to thrive Vomiting Microcephaly Myoclonus Cataract Growth delay Hypertelorism Hypertonia Muscle weakness Hernia Fatigue Spasticity Progressive neurologic deterioration Visual impairment Skeletal muscle atrophy Peripheral neuropathy Optic atrophy Tremor Blindness Cerebellar atrophy Dysarthria

Rare Symptoms - Less than 30% cases

Diplopia Abnormality of extrapyramidal motor function Progressive cerebellar ataxia Sensory neuropathy Parkinsonism Abnormal cerebellum morphology Neurodegeneration Poor coordination Downslanted palpebral fissures Distal amyotrophy Retinal degeneration Dysmetria Abnormality of the eye Difficulty walking Truncal ataxia Optic disc pallor Pontocerebellar atrophy Hypermelanotic macule Depressivity Diarrhea Headache Progressive visual loss Vertigo Abnormality of the cerebral white matter Respiratory failure Respiratory distress Hyperreflexia Recurrent pneumonia Irritability Palatal myoclonus Developmental regression Hepatosplenomegaly Myopathy Micrognathia Nausea High palate Dementia Visual loss Midface retrusion Osteoporosis Hearing impairment Hepatomegaly Pain Rod-cone dystrophy Scarring Inguinal hernia Erythema Respiratory insufficiency Dysphagia Cognitive impairment Cerebral atrophy Dystonia Hyporeflexia Cranial nerve VI palsy Bitemporal hemianopia Renal insufficiency Splenomegaly Decreased fertility in males Frontal bossing Branchial cyst Fever Hypoplastic anemia Fourth cranial nerve palsy Elevated red cell adenosine deaminase activity Neoplasm Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Pneumonia Persistence of hemoglobin F Transient erythroblastopenia Bifid thoracic vertebrae Constipation Arthritis Hyperhidrosis Dyspareunia Gastrointestinal hemorrhage Migraine Limitation of joint mobility Sudden loss of visual acuity Sepsis Abdominal distention Retinal dystrophy Female hypogonadism Lymphadenopathy Infertility Abdominal pain Papule Cough Skin rash Adrenocorticotropin deficient adrenal insufficiency Nyctalopia Postnatal growth retardation Partial duplication of thumb phalanx Myalgia Arthralgia Erythroid hypoplasia Parietal foramina Everted upper lip vermilion Internal ophthalmoplegia Bone marrow hypocellularity Hydrops fetalis Short thumb Depressed nasal ridge Pancytopenia Coarctation of aorta Webbed neck Premature birth Curved fingers Neutropenia Hypoplasia of the radius Telangiectases of the cheeks Cleft upper lip Nausea and vomiting Abnormality of hair density Narrow chest Lethargy Leukemia Abnormal cardiac septum morphology Cleft lip Abnormal dermatoglyphics Abnormality of the hand Soft, doughy skin Generalized arterial tortuosity Congenital hypoplastic anemia Decreased circulating ACTH level Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Osteosarcoma Hypoplastic ilia Myelodysplasia Thrombocytosis Macrocytic anemia Acute myeloid leukemia Myeloid leukemia Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Aciduria Nephrotic syndrome Dehydration Pulmonic stenosis Amenorrhea Convex nasal ridge Growth hormone excess Hypotension Pulmonary artery stenosis Bruising susceptibility Long face Arachnodactyly Delayed puberty Pectus carinatum Aortic root aneurysm Stroke Blepharophimosis Joint laxity Umbilical hernia Soft skin Osteopenia Macrotia Pectus excavatum Dilatation Tracheomalacia Congenital diaphragmatic hernia Macrocephaly Hypogonadotrophic hypogonadism Heart murmur Hyperinsulinemia Hyperextensible skin Easy fatigability Ischemic stroke Cutis laxa Aortic regurgitation Short chin Hyperglycemia Epiphora Ventricular hypertrophy Impotence Increased body weight Aortic valve stenosis Blurred vision Atrophic scars Keratoconus Gynecomastia Telangiectasia Thin skin Long philtrum Hypertension Decreased female libido Leukocytosis Acrocyanosis Posterior subcapsular cataract Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Intestinal obstruction Galactorrhea Apathy Urticaria Decreased fertility in females Purpura Conjunctivitis Vasculitis Arterial tortuosity Long eyelashes Eczema Secondary growth hormone deficiency Large forehead Ptosis Adrenocorticotropic hormone deficiency Hiatus hernia Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Male hypogonadism Pituitary hypothyroidism Glaucoma Erysipelas Oculomotor nerve palsy Porokeratosis Neuritis Bladder diverticulum Abnormal thrombosis Increased IgA level Rectal prolapse Chills Recurrent aphthous stomatitis Peritonitis Retrognathia Abnormality of vision Abnormal heart morphology External ophthalmoplegia Urinary bladder sphincter dysfunction Resting tremor Gaze-evoked nystagmus Impaired vibratory sensation Postural tremor Spinal muscular atrophy Dysdiadochokinesis Poor head control Drooling Oculomotor apraxia Slow saccadic eye movements Fasciculations Limb ataxia Broad-based gait Bradykinesia Pigmentary retinopathy Neuronal loss in central nervous system Chorea Nevus Postural instability Action tremor Spinocerebellar tract degeneration Dyskinesia Intellectual disability, severe Macroglossia Inability to walk Abnormality of skin pigmentation Generalized tonic-clonic seizures Feeding difficulties in infancy Coarse facial features Mandibular prognathia Cerebral cortical atrophy Absent speech Feeding difficulties Olivopontocerebellar atrophy Abnormal facial shape Impaired horizontal smooth pursuit Downbeat nystagmus Central nervous system degeneration Hypopnea Supranuclear ophthalmoplegia Dysmetric saccades Hypometric saccades Dilated fourth ventricle Sleep disturbance Abnormality of eye movement Generalized-onset seizure Calf muscle hypertrophy Thenar muscle atrophy Autophagic vacuoles Pelvic girdle muscle weakness Increased connective tissue Shoulder girdle muscle weakness Difficulty running Centrally nucleated skeletal muscle fibers Rimmed vacuoles Spinal rigidity Limb-girdle muscular dystrophy Myopia EMG: myopathic abnormalities Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Scapular winging Muscular dystrophy Distal muscle weakness Proximal muscle weakness Abnormality of metabolism/homeostasis Myocardial fibrosis Late-onset distal muscle weakness Hyperkeratosis Ophthalmoplegia Scaling skin Retinopathy Apnea Mental deterioration Neonatal hypotonia Rigidity Gait ataxia Motor delay Drusen Abnormality of visual evoked potentials Aspiration Photophobia Intellectual disability, profound High myopia Spastic tetraplegia Delayed myelination Brain atrophy Asthma Generalized myoclonic seizures Tetraplegia Ichthyosis Dry skin Increased serum lactate Status epilepticus Thrombocytopenia Atherosclerosis Precocious atherosclerosis Xanthomatosis Angina pectoris Frontotemporal dementia Delusions Abnormality of the periventricular white matter Agitation Cholelithiasis Hypercholesterolemia Joint dislocation Myelopathy Hallucinations Nephrolithiasis Chronic diarrhea Cholestasis Myocardial infarction Intention tremor Hepatitis Cerebral calcification Paraplegia Decreased HDL cholesterol concentration Pseudobulbar paralysis Congenital cataract Short stature Congestive heart failure Edema Atrial septal defect Short neck Ventricular septal defect Intrauterine growth retardation Anemia Cleft palate Strabismus Abnormality of central somatosensory evoked potentials Xanthelasma Tuberous xanthoma EEG with generalized slow activity Abnormality of the dentate nucleus EMG: axonal abnormality Frontal lobe dementia Abnormality of cholesterol metabolism Tendon xanthomatosis Juvenile cataract Giant cell hepatitis Malabsorption Spastic paraplegia Tetraparesis Developmental stagnation at onset of seizures Severe global developmental delay Polyhydramnios Acidosis Pes cavus Cerebellar hypoplasia Babinski sign Areflexia Anteverted nares Delayed speech and language development Hyporeflexia of upper limbs Bulbous nose Multifocal epileptiform discharges Developmental stagnation Abnormal retinal morphology Lower limb hyperreflexia Global brain atrophy Loss of consciousness Cerebral visual impairment Gingival overgrowth Choreoathetosis Lactic acidosis Distal sensory impairment Neurological speech impairment Absent Achilles reflex Abnormal pyramidal sign Joint stiffness Aggressive behavior EEG abnormality Jaundice Intellectual disability, mild Behavioral abnormality Trophic changes related to pain Cone dysfunction syndrome Inverted nipples Tapered finger Atrophy/Degeneration affecting the brainstem Steppage gait Tented upper lip vermilion Narrow palate Sensorimotor neuropathy Exotropia Narrow forehead Peripheral demyelination Sensory impairment Polyneuropathy Aortic tortuosity


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