Edema, and Decreased fetal movement

Diseases related with Edema and Decreased fetal movement

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

Top matches:

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

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Other less relevant matches:

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

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

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.

NEK9-RELATED LETHAL SKELETAL DYSPLASIA Is also known as lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • High palate
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEK9-RELATED LETHAL SKELETAL DYSPLASIA

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Decreased fetal movement

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Fetal akinesia sequence Common - Between 50% and 80% cases
Akinesia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Decreased fetal movement. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Arthrogryposis multiplex congenita

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Skeletal muscle atrophy Intrauterine growth retardation Short neck Pulmonary hypoplasia Growth delay Respiratory failure Pterygium Cleft palate Hypertelorism Microcephaly Talipes equinovarus Congenital contracture

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Congestive heart failure Paucity of anterior horn motor neurons High palate Depressed nasal ridge Rocker bottom foot Ventricular septal defect Limb joint contracture Dilated cardiomyopathy Generalized hypotonia Multiple pterygia Thin ribs Abnormality of the thorax Adducted thumb Hydrops fetalis Global developmental delay Facial palsy Hypertension Muscle weakness Motor delay Nemaline bodies Facial diplegia Short finger Hypokinesia Vertebral fusion Severe muscular hypotonia Large fontanelles Premature birth Ophthalmoplegia Micropenis Hypospadias Dysphagia Malignant hyperthermia Tubulointerstitial fibrosis Amyoplasia Generalized edema Esophageal varix Exertional dyspnea Difficulty climbing stairs Myopathic facies Limb-girdle muscular dystrophy Portal hypertension Reduced tendon reflexes Exercise intolerance Decreased liver function Hepatic fibrosis Cystic hygroma Waddling gait Sudden cardiac death Breech presentation Type 1 muscle fiber predominance Lethal skeletal dysplasia Omphalocele Stiff neck Overriding aorta Abnormal facial shape Epicanthus Hypoplasia of the thymus Broad ribs Overlapping fingers Thoracic scoliosis Fever Hernia Femoral bowing Torticollis Hepatic failure Narrow palate Cardiomegaly Increased connective tissue Oligohydramnios Narrow chest Skeletal dysplasia Long philtrum Congenital diaphragmatic hernia Edema of the dorsum of hands Lymphedema Joint dislocation Abnormality of the diaphragm Hypoplastic heart Multiple prenatal fractures Meningocele Increased susceptibility to fractures Axial muscle weakness Ascites Abnormality of the amniotic fluid Cirrhosis Decreased activity of mitochondrial complex IV Myopia Cutaneous photosensitivity Brain atrophy Congenital cataract Cerebellar hypoplasia Microphthalmia Ventriculomegaly Cataract Abnormal cortical gyration Sloping forehead Ichthyosis Abnormality of the pinna Proptosis Scoliosis Caesarian section High myopia Lactic acidosis Abnormal anterior horn cell morphology Severe hydrops fetalis Pain Fatigue Abdominal pain Acidosis Increased serum lactate Decreased activity of mitochondrial complex I Bradycardia Ragged-red muscle fibers Abnormality of mitochondrial metabolism Poor appetite Severe lactic acidosis Increased serum pyruvate Hydronephrosis Vitreoretinopathy Limb muscle weakness Widening of cervical spinal canal Muscular dystrophy Abnormality of the liver Hyperlordosis Proximal muscle weakness Difficulty walking Hepatosplenomegaly Dyspnea Hyporeflexia Myopathy Cardiomyopathy Hepatomegaly Peripheral neuropathy Muscular hypotonia Failure to thrive Abnormality of the spinal cord Degenerative vitreoretinopathy Abnormal form of the vertebral bodies Short stature Low-set, posteriorly rotated ears Recurrent fractures Limitation of joint mobility Webbed neck Abnormality of the ribs Spinal muscular atrophy Hypoplasia of the musculature Multiple joint contractures Abnormality of the hip bone Slender long bone Abnormality of the elbow Abnormal cortical bone morphology Amniotic constriction ring Abnormal cervical curvature


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