Edema, and Arthrogryposis multiplex congenita

Diseases related with Edema and Arthrogryposis multiplex congenita

In the following list you will find some of the most common rare diseases related to Edema and Arthrogryposis multiplex congenita that can help you solving undiagnosed cases.

Top matches:

Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 Is also known as lccs3|multiple contracture syndrome, israeli bedouin type b

Related symptoms:

  • Flexion contracture
  • Skeletal muscle atrophy
  • Respiratory insufficiency
  • Edema
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3

LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME Is also known as vuopala disease|laahd

Related symptoms:

  • Growth delay
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LETHAL ARTHROGRYPOSIS-ANTERIOR HORN CELL DISEASE SYNDROME

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Other less relevant matches:

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1 Is also known as herva disease|multiple contracture syndrome, finnish type|lccs|lccs1

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 1

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

Medium match RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Top 5 symptoms//phenotypes associated to Edema and Arthrogryposis multiplex congenita

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Respiratory failure Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Congenital contracture Decreased fetal movement Micrognathia Global developmental delay Akinesia Fetal akinesia sequence Generalized hypotonia Failure to thrive Microcephaly Facial palsy Short neck Intrauterine growth retardation Low-set ears Growth delay Respiratory insufficiency Pterygium

Rare Symptoms - Less than 30% cases

Motor delay Muscle weakness Dilated cardiomyopathy Limb joint contracture Short stature Pulmonary hypoplasia High palate Axial muscle weakness Abnormality of the cerebral white matter Severe muscular hypotonia Muscular hypotonia Hypertension Waddling gait Hepatomegaly Cardiomyopathy Congestive heart failure Hyporeflexia Proximal muscle weakness Hyperlordosis Muscular dystrophy Limb muscle weakness Abnormality of the thorax Ventriculomegaly Cerebellar hypoplasia Seizures Multiple pterygia Brain atrophy Paucity of anterior horn motor neurons Talipes equinovarus Multiple joint contractures Abnormality of the rib cage Hypoventilation Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Cor pulmonale Restrictive deficit on pulmonary function testing Nocturnal hypoventilation Primitive reflex Orthopnea Severe lactic acidosis Psychomotor deterioration Reduced vital capacity Peroneal muscle atrophy Muscle fiber necrosis Respiratory arrest Tetraplegia Neck muscle weakness Progressive muscle weakness Pneumonia Rigidity Neonatal hypotonia Apnea Cough Frontoparietal polymicrogyria Generalized muscle weakness Ventricular hypertrophy Elbow flexion contracture Spinal rigidity Poor head control Nasal speech Gowers sign Congenital muscular dystrophy Increased variability in muscle fiber diameter High pitched voice Diffuse leukoencephalopathy Generalized amyotrophy Hip contracture Crackles Metabolic acidosis Muscular hypotonia of the trunk Cerebral atrophy Recurrent infections Encephalopathy Leukoencephalopathy Acidosis Retrognathia Spastic tetraparesis Leukodystrophy Respiratory distress Developmental regression Irritability Tetraparesis Spastic tetraplegia Abnormal pyramidal sign Wide intermamillary distance Lactic acidosis Polymicrogyria Hypoplasia of the corpus callosum Abnormality of mitochondrial metabolism Minicore myopathy Hypoplasia of the brainstem Hamstring contractures Pendular nystagmus Loss of speech Limited neck flexion Episodic fever Opisthotonus Agitation Abnormality of skeletal morphology Optic atrophy Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Cardiac conduction abnormality Nystagmus Spasticity Cognitive impairment Feeding difficulties Visual impairment Fever Difficulty climbing stairs Scoliosis Recurrent fractures Ventricular septal defect Hydronephrosis High myopia Vitreoretinopathy Degenerative vitreoretinopathy Hypertelorism Low-set, posteriorly rotated ears Limitation of joint mobility Agyria Webbed neck Abnormality of the ribs Abnormal form of the vertebral bodies Spinal muscular atrophy Abnormality of the hip bone Slender long bone Abnormality of the elbow Abnormal cortical bone morphology Myopia Hand clenching Hypoplasia of the musculature Cutaneous photosensitivity Neurogenic bladder Abnormal anterior horn cell morphology Severe hydrops fetalis Cleft palate Cataract Microphthalmia Congenital cataract Rocker bottom foot Centrally nucleated skeletal muscle fibers Abnormal facial shape Pain Areflexia Agenesis of corpus callosum Hirsutism Full cheeks Lymphedema Lissencephaly Amniotic constriction ring Abnormality of the amniotic fluid Edema of the dorsum of hands Adducted thumb Tubulointerstitial fibrosis Dysphagia Hypospadias Micropenis Ophthalmoplegia Premature birth Large fontanelles Hypokinesia Esophageal varix Thin ribs Facial diplegia Nemaline bodies Breech presentation Type 1 muscle fiber predominance Increased connective tissue Multiple prenatal fractures Abnormality of the diaphragm Generalized edema Exertional dyspnea Abnormality of the spinal cord Hepatic failure Widening of cervical spinal canal Peripheral neuropathy Dyspnea Hepatosplenomegaly Difficulty walking Abnormality of the liver Cirrhosis Ascites Myopathic facies Sudden cardiac death Hydrops fetalis Hepatic fibrosis Decreased liver function Exercise intolerance Reduced tendon reflexes Portal hypertension Limb-girdle muscular dystrophy Progressive leukoencephalopathy


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