Flexion contracture, and Atrial septal defect

Diseases related with Flexion contracture and Atrial septal defect

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

Top matches:

Related symptoms:

  • Atrial septal defect


SOURCES: OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 8; ASD8

Related symptoms:

  • Flexion contracture
  • Ventricular septal defect
  • Atrial septal defect
  • Camptodactyly
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2

Related symptoms:

  • Flexion contracture
  • Hypertension
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: MESH OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION; HCAD

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome|waardenburg syndrome with limb anomalies|waardenburg syndrome type iii|ws3

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 3

Top 5 symptoms//phenotypes associated to Flexion contracture and Atrial septal defect

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Abnormal cardiac septum morphology Uncommon - Between 30% and 50% cases
Abnormal heart morphology Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Generalized hypotonia

Rare Symptoms - Less than 30% cases

Patent ductus arteriosus Areflexia Respiratory failure Spinal muscular atrophy Decreased fetal movement Congestive heart failure Respiratory insufficiency Intrauterine growth retardation Hypertelorism Short nose Joint laxity Respiratory distress Anal atresia Abnormality of the skeletal system Global developmental delay Camptodactyly Pulmonic stenosis Skeletal muscle atrophy Cardiomyopathy Soft skin Narrow maxilla Ptosis Motor delay Arrhythmia Myopathy Right atrial isomerism Elevated serum creatine phosphokinase Neonatal hypotonia Facial palsy Hip dislocation Failure to thrive Coarctation of aorta Narrow nose Broad forehead Intestinal malrotation Arachnodactyly Thin skin Abnormality of the genital system Carious teeth Dental crowding Pointed chin Cutis marmorata Deeply set eye Constipation Pectus excavatum Finger clinodactyly Abnormal facial shape Short chin Long nose Calf muscle hypertrophy Muscular dystrophy Tented upper lip vermilion Telecanthus Joint stiffness Blepharophimosis Camptodactyly of finger Spastic paraplegia Thick eyebrow Abnormality of the face Narrow nasal bridge Microcephaly Cutaneous finger syndactyly Synostosis of carpal bones Tracheomalacia Acrocyanosis Abnormality of finger White hair Abnormality of the upper limb Downslanted palpebral fissures Hearing impairment Dilated cardiomyopathy Difficulty climbing stairs Generalized muscle weakness Webbed neck Knee flexion contracture Radioulnar synostosis Congenital muscular dystrophy Left atrial isomerism Myopathic facies Centrally nucleated skeletal muscle fibers Intellectual disability Difficulty running Ankle contracture Cleft soft palate Left ventricular noncompaction Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Mitochondrial depletion Bilateral trilobed lungs Atrioventricular canal defect Single ventricle Posteriorly rotated ears Increased variability in muscle fiber diameter Axonal loss Abnormal cortical gyration Fractures of the long bones Multiple prenatal fractures Hypertension Micropenis Patent foramen ovale Prominent nasal bridge Tachycardia Bulbous nose Tapered finger Status epilepticus Aganglionic megacolon Neonatal respiratory distress Severe muscular hypotonia Cupped ear Multiple joint contractures Full cheeks Asthma Inflammatory abnormality of the skin Joint contracture of the hand Pyloric stenosis Overlapping toe Aseptic necrosis Premature birth Atopic dermatitis Decreased hip abduction Peripheral neuropathy Dysphagia Polyhydramnios Peripheral axonal neuropathy Pulmonary hypoplasia Abnormal autonomic nervous system physiology Agitation Common atrium Choanal stenosis Agenesis of corpus callosum Ambiguous genitalia Situs inversus totalis Dextrocardia Abnormal lung lobation Polysplenia Asplenia Low-set ears Pulmonary artery atresia Complete atrioventricular canal defect Anomalous pulmonary venous return Abdominal situs inversus Heterotaxy Total anomalous pulmonary venous return Biliary atresia Abnormality of cardiovascular system morphology Growth delay Hyperconvex nail Paralysis Contractures of the interphalangeal joint of the thumb Hernia Recurrent respiratory infections Umbilical hernia Proximal muscle weakness Muscular hypotonia of the trunk Tetraparesis Proximal muscle weakness in lower limbs Recurrent pneumonia Axonal degeneration EMG: neuropathic changes Proximal amyotrophy Tongue fasciculations Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells Atelectasis


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