Fever, and Macroglossia

Diseases related with Fever and Macroglossia

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


Top matches:

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Medium match GLYCOGEN STORAGE DISEASE II; GSD2


Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

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Other less relevant matches:

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Medium match NEUROPATHY, PAINFUL


Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Medium match SANDHOFF DISEASE, INFANTILE FORM


Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1


Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Medium match MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE


Autosomal recessive myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. Some patients show transient muscle weakness (Koch et al., 1993). Becker disease is more common and more severe than Thomsen disease.

MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE Is also known as becker disease|myotonia, generalized

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Fever
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE

Medium match MYOTONIA, POTASSIUM-AGGRAVATED


In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Top 5 symptoms//phenotypes associated to Fever and Macroglossia

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Fever and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Cardiomegaly Short stature Feeding difficulties Seizures Hepatomegaly Arrhythmia Feeding difficulties in infancy Abnormality of the face Splenomegaly Myotonia Hyperhidrosis Pain Congestive heart failure Myalgia Paralysis Constipation

Rare Symptoms - Less than 30% cases


Gastroesophageal reflux EEG abnormality Increased thyroid-stimulating hormone level Hoarse cry Anxiety Ectopic thyroid Thyroid agenesis Large posterior fontanelle Thyroid dysgenesis Aspiration Babinski sign Clumsiness Sleep disturbance Coarse facial features Fatigue Growth delay Abdominal distention Flexion contracture Growth abnormality Urinary incontinence Peripheral neuropathy Hypothyroidism Umbilical hernia Dry skin Osteopenia Recurrent respiratory infections Failure to thrive Elevated serum creatine phosphokinase Bradycardia Goiter Stridor Dysphagia Congenital hypothyroidism Hypothermia Thyroid hypoplasia Cerebral cortical atrophy Hepatosplenomegaly Ataxia Lipodystrophy Arthralgia Muscle stiffness Skin rash Lymphadenopathy Prominent nose Thick lower lip vermilion Skeletal muscle hypertrophy Intellectual disability, mild Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Clubbing of fingers Scoliosis Erythema nodosum Macrotia Hyperreflexia Global developmental delay Macrocephaly Respiratory insufficiency Optic atrophy Intellectual disability, severe Basal ganglia calcification Camptodactyly of finger Bone pain Hyperpigmentation of the skin Hypertriglyceridemia Growth hormone deficiency Abnormal vertebral morphology Apnea Inability to walk Myotonia with warm-up phenomenon Hyperbilirubinemia Hypertrophy of the lower limb Carcinoma Scarring Abnormality of the liver Spondyloepiphyseal dysplasia Erythema Muscle hypertrophy of the lower extremities EMG: myotonic runs Arthritis Glucose intolerance Elevated hepatic transaminase Lethargy Cyanosis Rimmed vacuoles Stiff skin Myositis Abnormally large globe Immune dysregulation Generalized lipodystrophy Flexion contracture of toe Hypochromic anemia Panniculitis Hypermelanotic macule Episcleritis Lid lag on downgaze Periodic paralysis Finger swelling Long fingers Lymphopenia Adipose tissue loss Laryngospasm Lower limb muscle weakness Delayed skeletal maturation Respiratory arrest Elbow flexion contracture Conjunctivitis Primary hypothyroidism Handgrip myotonia Abnormality of the hair Hypogonadism Jaundice Abnormality of the eye Paresthesia Oral cleft Hypotension Abnormality of reproductive system physiology Depressed nasal ridge Large fontanelles Nephrolithiasis Abnormality of epiphysis morphology Sinusitis Reduced tendon reflexes Hypertension Oligodontia Anosmia Compensated hypothyroidism Abnormality of vision Intestinal obstruction Tracheoesophageal fistula Angiokeratoma corporis diffusum Abnormality of the thyroid gland Prolonged neonatal jaundice Abnormal pericardium morphology Palpebral edema Abnormal eyelid morphology Anterior hypopituitarism Depressivity Cataract Percussion myotonia Chronic diarrhea Pseudohypoparathyroidism Decerebrate rigidity Malignant hyperthermia Opisthotonus Thyroid hemiagenesis Dysarthria Blindness Dementia Respiratory tract infection Neurodegeneration Progressive cerebellar ataxia Psychosis Progressive neurologic deterioration Hypohidrosis Rigidity Fasciculations Hemiplegia Emotional lability Impotence Orthostatic hypotension Episodic abdominal pain Megalencephaly Supranuclear gaze palsy Motor deterioration Upper motor neuron dysfunction Progressive psychomotor deterioration Cherry red spot of the macula Abnormality of glycosphingolipid metabolism Impaired thermal sensitivity Ventricular hypertrophy Thrombocytopenia Status epilepticus Wide mouth Neurological speech impairment Hypermetropia Abnormality of movement Infertility Astigmatism Falls Hypopigmentation of the skin Hypoplasia of the maxilla Abnormal cerebellum morphology Focal-onset seizure Overgrowth Generalized-onset seizure Intellectual disability, profound Broad-based gait Deeply set eye Postnatal microcephaly Exotropia Intellectual disability, progressive Widely spaced teeth Cerebral palsy Drooling Hyperkinesis Incoordination Self-injurious behavior Flat occiput Albinism Polyphagia Keratoconus Atonic seizures Autistic behavior Mandibular prognathia Drowsiness Strabismus Joint stiffness Abnormal pyramidal sign Arthrogryposis multiplex congenita Arachnodactyly Subcutaneous nodule Hyperostosis Right bundle branch block Lipoatrophy Episodic fever Clubbing of toes Abnormality of the Leydig cells Microcephaly Hypertelorism Nystagmus Sensorineural hearing impairment Autism Abnormal facial shape Motor delay Myopia Cerebellar atrophy Vomiting Behavioral abnormality Kyphosis Absent speech Obesity Encephalopathy Inguinal hernia Brachycephaly Hyperactivity Gait ataxia Protruding tongue Overweight Recurrent infections Dysphasia Generalized muscle weakness Peripheral demyelination Abnormality of the cardiovascular system Type II diabetes mellitus Progressive muscle weakness EMG abnormality Scapular winging Macular degeneration Atherosclerosis Respiratory insufficiency due to muscle weakness Delayed gross motor development Atrioventricular block Nasal speech Emphysema Exertional dyspnea Muscular dystrophy Difficulty running Dilatation of the cerebral artery Progressive proximal muscle weakness Wolff-Parkinson-White syndrome Stroke-like episode Pelvic girdle muscle weakness Diaphragmatic paralysis Increased muscle fatiguability Abdominal wall muscle weakness Shortened PR interval Abnormal CNS myelination Firm muscles Anemia Edema Limb muscle weakness Stroke Epileptic spasms Ptosis Progressive gait ataxia Blue irides Fair hair Short attention span Profound global developmental delay Moderate global developmental delay Happy demeanor Limb tremor Inappropriate laughter Sleep-wake cycle disturbance Large foramen magnum Tongue thrusting Paroxysmal bursts of laughter Anisometropia Cognitive impairment Hypertrophic cardiomyopathy Gait disturbance Cardiomyopathy Myopathy Headache Dilatation Abnormality of metabolism/homeostasis Areflexia Respiratory failure Dyspnea Acidosis Difficulty walking Hypoglycemia Conductive hearing impairment Proximal muscle weakness Apneic episodes in infancy



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