Flexion contracture, and Coarctation of aorta

Diseases related with Flexion contracture and Coarctation of aorta

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

Top matches:

Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic|annuloaortic ectasia|cystic medial necrosis of aorta|aortic dissection, familial|aneurysm, thoracic aortic|faa1

Related symptoms:

  • Cataract
  • Flexion contracture
  • Hypertension
  • Dilatation
  • Pectus excavatum


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL AORTIC DISSECTION

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

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Other less relevant matches:

Low match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.

MATTHEW-WOOD SYNDROME Is also known as anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm|syndromic microphthalmia type 9|mcops9|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrom

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATTHEW-WOOD SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

FETAL AKINESIA DEFORMATION SEQUENCE Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fads|pena-shokeir syndrome type 1|fetal akinesia sequence|pena-shokeir syndrome, type i

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA DEFORMATION SEQUENCE

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

CATEL-MANZKE SYNDROME Is also known as index finger anomaly-pierre robin syndrome|index finger anomaly with pierre robin syndrome|pierre robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|palatodigital syndrome, catel-manzke type|pierre robin syndrome with hyperph

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATEL-MANZKE SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see {306955}.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 Is also known as transposition of the great arteries, dextro-looped 3, formerly|dtga3, formerly

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Hernia
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6

Top 5 symptoms//phenotypes associated to Flexion contracture and Coarctation of aorta

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect Atrial septal defect Camptodactyly Growth delay Abnormality of cardiovascular system morphology Hearing impairment Cryptorchidism High palate Hypertelorism Edema Intellectual disability Scoliosis Abnormal heart morphology Low-set ears Pectus excavatum Generalized hypotonia Respiratory distress Cystic hygroma Downslanted palpebral fissures Pulmonic stenosis Umbilical hernia Hernia Abnormal cardiac septum morphology Ventriculomegaly Seizures Cleft palate Patent ductus arteriosus Single ventricle Hypoplastic left heart Coloboma Short neck Cleft upper lip Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases

Microphthalmia Blepharophimosis Microcephaly Hypoplasia of the corpus callosum Epicanthus Inguinal hernia Global developmental delay Respiratory insufficiency Hydronephrosis Mild intrauterine growth retardation Pectus carinatum Tetralogy of Fallot Overriding aorta Abnormality of the pinna Thyroid hypoplasia Adrenal hypoplasia Rocker bottom foot Pulmonary artery atresia Retrognathia Ichthyosis Double outlet right ventricle Talipes equinovarus Ptosis Deeply set eye Proptosis Abnormality of the skeletal system Camptodactyly of finger Cerebellar hypoplasia Premature birth Joint laxity Cutis marmorata Strabismus Arachnodactyly Intestinal malrotation Abnormality of the genital system Posteriorly rotated ears Narrow mouth Finger clinodactyly Short distal phalanx of finger Highly arched eyebrow Iris coloboma Excessive daytime somnolence Talipes Joint hyperflexibility Dandy-Walker malformation Decreased fetal movement Short palpebral fissure Joint stiffness Postnatal growth retardation Single transverse palmar crease Small nail High, narrow palate Full cheeks Abnormality of pelvic girdle bone morphology Hypertrichosis Arthrogryposis multiplex congenita Decreased body weight Small for gestational age Telecanthus Polyhydramnios Polydactyly Long philtrum Kyphosis Low-set, posteriorly rotated ears Brachydactyly Pterygium Elbow ankylosis Depressed nasal tip Fetal akinesia sequence Wide anterior fontanel Abnormality of abdomen morphology Anencephaly Overlapping fingers Ulnar deviation of the hand Cavum septum pellucidum Fatigable weakness Thin ribs Hydranencephaly Fractures of the long bones Ulnar deviation of the hand or of fingers of the hand Absent septum pellucidum Upslanted palpebral fissure Slender long bone Short umbilical cord Hypokinesia Small placenta Absent palmar crease Generalized amyotrophy Thoracic hypoplasia Intestinal hypoplasia Multiple joint contractures Akinesia Congenital contracture Malar flattening Clinodactyly Clinodactyly of the 5th finger Abnormality of epiphysis morphology Cataract Short toe Hypoplastic ilia Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Increased mean corpuscular volume Aplastic anemia 11 pairs of ribs Osteosarcoma Thrombocytosis Congenital hypoplastic anemia Macrocytic anemia Acute myeloid leukemia Myeloid leukemia Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Parietal foramina Everted upper lip vermilion Myelodysplasia Transposition of the great arteries Right aortic arch Total anomalous pulmonary venous return Heterotaxy Anomalous pulmonary venous return Complete atrioventricular canal defect Secundum atrial septal defect Pulmonary artery stenosis Hypoplastic sacral vertebrae Partial duplication of thumb phalanx Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Triphalangeal thumb Abnormality of the hand Joint dislocation Thin eyebrow Hyperphalangy of the 2nd finger Ulnar deviation of the 2nd finger Oral synechia Prominent antihelix Knee dislocation Metatarsus valgus Ankyloglossia Short hallux Fatigue Pierre-Robin sequence Glossoptosis Short humerus Dextrocardia Short middle phalanx of finger Chronic otitis media Adducted thumb Narrow palpebral fissure Anemia Vomiting Hypoplasia of the radius Neutropenia Abnormal dermatoglyphics Bone marrow hypocellularity Hydrops fetalis Short thumb Depressed nasal ridge Pancytopenia Webbed neck Nausea Congestive heart failure Nausea and vomiting Narrow chest Lethargy Leukemia Pallor Cleft lip Glaucoma Thrombocytopenia Radial deviation of the 2nd finger Visual impairment Hydrocephalus Developmental regression Alopecia Intellectual disability, mild Tethered cord Absence seizures Cerebral visual impairment Wide intermamillary distance Jaundice Erythema Blindness Optic atrophy Feeding difficulties Narrow maxilla Soft skin Narrow nose Hyperkeratosis Hypotrichosis Short chin Short clavicles Hypoplastic pelvis Hypoplastic scapulae Myelomeningocele Meningocele Parakeratosis Epiphyseal stippling Congenital ichthyosiform erythroderma Nevus Erythroderma Renal hypoplasia/aplasia Congenital hip dislocation Short ribs Abnormality of the nail Cyanosis Renal agenesis Long nose Pointed chin Vertebral hypoplasia Aortic regurgitation Dilatation of the cerebral artery Aortic root aneurysm Exertional dyspnea Coronary artery atherosclerosis Aortic aneurysm Bicuspid aortic valve Atherosclerosis Peripheral arterial stenosis Aortic valve stenosis Cardiomegaly Chest pain Retinal detachment Stroke Dilatation Hypertension Aortic dissection Left ventricular failure Dental crowding Iris flocculi Thin skin Anal atresia Carious teeth Broad forehead Constipation Short nose Cystic medial necrosis of the aorta Thoracic aortic aneurysm Paroxysmal dyspnea Descending aortic dissection Descending thoracic aorta aneurysm Carotid artery dilatation Cystic medial necrosis Ascending aortic dissection Abdominal aortic aneurysm Subvalvular aortic stenosis Aplasia/hypoplasia of the extremities Macrocephaly Cerebral atrophy Narrow forehead Convex nasal ridge Stage 5 chronic kidney disease Hip dislocation Proteinuria Midface retrusion Cerebellar atrophy Oligohydramnios Anteverted nares Delayed speech and language development Spasticity Nystagmus Agenesis of pulmonary vessels Abnormal spleen morphology Sloping forehead Nephrotic syndrome Hypoplastic spleen Corpus callosum atrophy Skeletal muscle atrophy Peripheral neuropathy Depressed nasal bridge Hypertensive crisis Diffuse mesangial sclerosis Hand clenching Cortical gyral simplification Pachygyria Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Leukodystrophy Postnatal microcephaly Hypoplastic left atrium Aplasia/Hypoplasia of the pancreas Aplasia/Hypoplasia involving the central nervous system Abnormality of the kidney Renal hypoplasia Intellectual disability, profound Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Vesicoureteral reflux Protruding ear Respiratory failure Horseshoe kidney Brachycephaly Severe short stature Wide nasal bridge Muscular hypotonia Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Parachute mitral valve Abnormal lung morphology Abnormality of the genitourinary system Right aortic arch with mirror image branching Duodenal stenosis Bilateral lung agenesis Pulmonary artery hypoplasia Renal malrotation Pelvic kidney Annular pancreas Abnormality of the diaphragm Diaphragmatic eventration Optic nerve hypoplasia Bilateral microphthalmos Bicornuate uterus Abnormality of the uterus Truncus arteriosus Hiatus hernia Hypoplasia of the uterus Anophthalmia Hypoplastic pulmonary veins


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Cerebral atrophy, related diseases and genetic alterations Hepatomegaly and Generalized tonic-clonic seizures, related diseases and genetic alterations Congestive heart failure and Cholestasis, related diseases and genetic alterations Obesity and Arthralgia, related diseases and genetic alterations Sensorineural hearing impairment and Nephrotic syndrome, related diseases and genetic alterations Microcephaly and Autistic behavior, related diseases and genetic alterations