Flexion contracture, and Coma

Diseases related with Flexion contracture and Coma

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

Top matches:

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Other less relevant matches:

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction.

PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY Is also known as diaphorase deficiency|2-oxoglutarate complex deficiency|pyruvate dehydrogenase protein x component deficiency|dihydrolipoyl dehydrogenase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|pyruvate dehydrogenase complex component e3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Respiratory distress Arrhythmia Ataxia Hearing impairment Hepatomegaly Cardiomegaly Hypoglycemia Metabolic acidosis Aciduria Hyperammonemia Acidosis Vomiting Encephalopathy Neonatal hypotonia Arthrogryposis multiplex congenita Weight loss Abnormal heart morphology Spastic tetraplegia Motor delay Lethargy

Rare Symptoms - Less than 30% cases

Biventricular hypertrophy Cataract Prominent forehead Hypothermia Ventricular arrhythmia Thin upper lip vermilion Fatigue Recurrent infections Myopathy Cognitive impairment Low-set ears Hypertelorism High palate Elevated hepatic transaminase Ventriculomegaly Dicarboxylic aciduria Progressive neurologic deterioration Spastic paraplegia Severe global developmental delay Optic atrophy Scarring Fever Anemia Macrovesicular hepatic steatosis Hypoketotic hypoglycemia Respiratory insufficiency Hepatic steatosis Polymicrogyria Hepatic failure Dilated cardiomyopathy Feeding difficulties in infancy Respiratory failure Agenesis of corpus callosum Elevated serum creatine phosphokinase Cardiomyopathy Tetraplegia Microcephaly Hepatosplenomegaly Prominent metopic ridge Wide nasal bridge Hypertension Contractures of the joints of the lower limbs Hypovolemia Abnormality of the upper urinary tract Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Neurodevelopmental delay Constipation Hyperglycemia Bilateral ptosis Apraxia Dehydration Generalized myoclonic seizures Downturned corners of mouth Generalized tonic-clonic seizures Intellectual disability, severe Intrauterine growth retardation Myopia Glycosuria Portal hypertension Ecchymosis Edema Short stature Acute promyelocytic leukemia Chronic pain Night sweats Acute monocytic leukemia Gingival bleeding Alopecia Neuroblastoma Acute myeloid leukemia Myeloid leukemia Petechiae Menorrhagia Myelodysplasia Peripheral axonal neuropathy Hyperactivity Leukopenia Aminoaciduria Alkalosis Increased reactive oxygen species production Hyperventilation Brittle hair Tachypnea Intellectual disability, progressive Hepatic fibrosis EEG abnormality Decreased liver function Febrile seizures Cirrhosis Attention deficit hyperactivity disorder Abnormality of the liver Irritability Sarcoma Pancytopenia Dry hair Abdominal pain Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Hypopigmentation of the skin Increased total bilirubin Abnormality of nervous system morphology Decreased plasma free carnitine Long toe Ureteral duplication Cystic renal dysplasia Underdeveloped nasal alae Heart block Enlarged kidney Hepatic calcification Tapered toe Bruising susceptibility Headache Lymphadenopathy Confusion Leukemia Prominent nasal bridge Dyspnea Thrombocytopenia Distal amyotrophy Intracerebral periventricular calcifications Distal sensory impairment Pain Neoplasm Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Cerebral edema Trichorrhexis nodosa Cerebral hemorrhage Hydrocephalus Neurodegeneration Paraplegia Abnormality of the cerebral white matter Muscular dystrophy Mental deterioration Cerebellar hypoplasia Gait disturbance Encephalocele Macrocephaly Poor gross motor coordination Projectile vomiting Subependymal cysts Periventricular cysts Decreased activity of the pyruvate dehydrogenase complex Abnormal cerebellum morphology Heterotopia Increased serum pyruvate Gray matter heterotopias Respiratory arrest Loss of consciousness Ventricular hypertrophy Nausea and vomiting Hyperhidrosis Right hemiplegia Type II lissencephaly Absence seizures Porencephalic cyst Occipital encephalocele Infantile spasms Hypoplasia of the brainstem Hemiplegia Leukoencephalopathy Lissencephaly Hyperalaninemia Poor fine motor coordination Abnormal hair quantity Dysarthria Dilatation Cerebral atrophy Dystonia Hypertonia Hypoplasia of the corpus callosum Abnormal pyramidal sign Epicanthus Muscular hypotonia of the trunk Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Pectus excavatum Retinopathy Severe lactic acidosis Trigonocephaly Corpus callosum atrophy Poor coordination Lipoma Difficulty running Partial agenesis of the corpus callosum Spastic diplegia Broad-based gait Distal muscle weakness Telecanthus Tetraparesis Increased serum lactate Hemolytic anemia Lactic acidosis Unsteady gait Abnormality of eye movement Hyperkalemia Hypoplastic toenails Intestinal obstruction Patent ductus arteriosus Anosmia Gastroesophageal reflux Hypothyroidism Autism CNS hypomyelination Pneumonia Splenomegaly Hypertrophic cardiomyopathy Depressivity Abnormality of cardiovascular system morphology Areflexia Immunodeficiency Syndactyly Behavioral abnormality Peripheral neuropathy Autistic behavior Hyporeflexia Esotropia Hypoplasia of dental enamel Abnormality of the face Pulmonary arterial hypertension Hypopigmented skin patches Tetralogy of Fallot Microdontia Round face Abnormal cardiac septum morphology Syncope Sudden cardiac death Hypoplasia of the maxilla Joint hypermobility Toe syndactyly Carious teeth Hip dislocation Abnormality of the dentition Ventricular septal defect Bradycardia Demyelinating peripheral neuropathy White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction Ileus White forelock White hair Cerebral dysmyelination Heterochromia iridis Blue irides Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Premature graying of hair Microcolon Decreased lacrimation Dysphagia Long-segment aganglionic megacolon Depressed nasal bridge Decreased nerve conduction velocity Pes cavus Abnormal facial shape Myoclonus Spasmus nutans Dysmyelinating leukodystrophy Spotty hyperpigmentation Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Sinusitis Cardiac arrest Overfolded helix Neonatal insulin-dependent diabetes mellitus Microalbuminuria Spastic paraparesis Apnea Hydronephrosis Pancreatic hypoplasia High forehead Torticollis Abnormality of the foot Posteriorly rotated ears Reduced pancreatic beta cells Diabetes mellitus Renal insufficiency Congestive heart failure Insulin resistance Abnormal autonomic nervous system physiology Leukodystrophy Maternal diabetes Renal dysplasia Polycystic kidney dysplasia Peripheral demyelination Narrow palate Knee flexion contracture Multicystic kidney dysplasia Elbow flexion contracture Oligohydramnios Hypohidrosis Sloping forehead Wide intermamillary distance Abnormality of the nervous system Hypogonadism Tapered finger Aganglionic megacolon Bulbous nose Steatorrhea Transient neonatal diabetes mellitus Hypocalcemia Obsessive-compulsive behavior Bronchitis Mixed hearing impairment Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Patent foramen ovale Protruding tongue Atrioventricular block Optic nerve hypoplasia Spasticity Cutaneous syndactyly Ventricular tachycardia Abnormality of dental enamel Cutaneous finger syndactyly Amelogenesis imperfecta Abnormality of the pancreatic islet cells Abnormal direction of ventricular apex Hyperreflexia Feeding difficulties Elevated hemoglobin A1c Growth delay Nystagmus Atrioventricular dissociation Cryptorchidism T-wave alternans Abnormality of dental color Frontal balding Sensorineural hearing impairment Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypoglycemic encephalopathy


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