Flexion contracture, and Polyhydramnios

Diseases related with Flexion contracture and Polyhydramnios

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

Top matches:

Related symptoms:

  • Flexion contracture
  • Macrocephaly
  • Polyhydramnios
  • Arthrogryposis multiplex congenita
  • Decreased fetal movement


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 6; LCCS6

Related symptoms:

  • Flexion contracture
  • Talipes equinovarus
  • Polyhydramnios
  • Retrognathia
  • Camptodactyly


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Other less relevant matches:

Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4

Lethal congenital contracture syndrome-8, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Flexion contracture
  • Respiratory distress
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 8; LCCS8

Congenital myasthenic syndrome-20 is an autosomal recessive neuromuscular disorder characterized by severe hypotonia associated with episodic apnea soon after birth. Patients have muscle weakness resulting in delayed walking, ptosis, poor sucking and swallowing, and generalized limb fatigability and weakness. EMG studies usually show a decremental response to repetitive nerve stimulation, and some patients may show a good response to AChE inhibitors (summary by Bauche et al., 2016).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC; CMS20

Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Micrognathia
  • Cleft palate
  • Flexion contracture
  • Areflexia


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 7; LCCS7

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

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

Symptoms // Phenotype % cases
Decreased fetal movement Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Common - Between 50% and 80% cases
Congenital contracture Common - Between 50% and 80% cases
Akinesia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Areflexia Bulbar palsy Respiratory failure Respiratory insufficiency due to muscle weakness Paralysis Fetal akinesia sequence Muscle weakness Poor suck Myopathy

Rare Symptoms - Less than 30% cases

Seizures Ophthalmoparesis Apnea Oral-pharyngeal dysphagia Proximal muscle weakness Pterygium Respiratory distress Facial diplegia Small for gestational age Distal arthrogryposis Cleft palate Dysphagia Ptosis Ophthalmoplegia Camptodactyly Feeding difficulties Respiratory insufficiency Facial palsy Generalized muscle weakness Thin ribs Centrally nucleated skeletal muscle fibers Abnormal lower motor neuron morphology Retinal hemorrhage Hearing impairment Psychosis Hepatitis Strabismus Failure to thrive Cyanosis Tapered finger Hemolytic anemia Paresthesia Autoimmunity Respiratory tract infection Rigidity Dyspnea Fever Dysarthria Glycosuria Diplopia Myositis Muscle specific kinase antibody positivity Generalized hypotonia due to defect at the neuromuscular junction Acetylcholine receptor antibody positivity Apneic episodes precipitated by illness, fatigue, stress Sudden episodic apnea Decreased miniature endplate potentials Hyperacusis Pure red cell aplasia Abnormality of the thymus EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Type 2 muscle fiber atrophy Raynaud phenomenon Aspiration Acrocyanosis Hashimoto thyroiditis Primary adrenal insufficiency Fatigable weakness Hyperthyroidism Weak cry Abnormality of the immune system Elevated serum creatine phosphokinase Rheumatoid arthritis Systemic lupus erythematosus Easy fatigability Decreased nerve conduction velocity Hypoventilation Peripheral neuropathy Cerebellar atrophy Hypoplasia of the brainstem Neuronal loss in central nervous system Gliosis Severe global developmental delay Myoclonus Cerebellar hypoplasia Encephalopathy Abnormality of metabolism/homeostasis Hypertonia Spasticity Infantile encephalopathy Microcephaly Increased connective tissue Nemaline bodies Severe muscular hypotonia Premature birth Skeletal muscle atrophy Bilateral talipes equinovarus Pulmonary hypoplasia Retrognathia Talipes equinovarus Hypoplasia of the pons Loss of Purkinje cells in the cerebellar vermis Knee flexion contracture Neonatal hypotonia Micrognathia Oval face Overlapping fingers Scaphocephaly Joint contracture of the hand Single transverse palmar crease High, narrow palate Arachnodactyly Dolichocephaly High palate Scoliosis Hypertelorism Growth delay Bulbar signs Macrocephaly Neck muscle weakness Delayed ability to walk Stridor Dysphonia Kyphosis Cognitive impairment Single fiber EMG abnormality


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