Flexion contracture, and Intestinal malrotation

Diseases related with Flexion contracture and Intestinal malrotation

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

Top matches:

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

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Ritscher-Schinzel syndrome-2 is an X-linked recessive syndromic form of intellectual disability associated with posterior fossa defects, cardiac malformations, and minor abnormalities of the face and distal extremities (summary by Kolanczyk et al., 2015).For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about RITSCHER-SCHINZEL SYNDROME 2; RTSC2

Other less relevant matches:

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

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

POSTAXIAL ACROFACIAL DYSOSTOSIS Is also known as genee-wiedemann syndrome|miller syndrome|mandibulfacial dysostosis with postaxial limb anomalies|postaxial acrodysostosis|poads|acrofacial dysostosis, genee-wiedmann type

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Strabismus
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about POSTAXIAL ACROFACIAL DYSOSTOSIS

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Low match DESMOSTEROLOSIS

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.

SHPRINTZEN-GOLDBERG SYNDROME Is also known as sgs|marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|marfanoid disorder with craniosynostosis, type i

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHPRINTZEN-GOLDBERG SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Intestinal malrotation

Symptoms // Phenotype % cases
Atrial septal defect Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Intellectual disability Global developmental delay Arachnodactyly Camptodactyly Cleft palate Abnormal heart morphology Ventricular septal defect Failure to thrive Abnormal facial shape Talipes equinovarus Brachycephaly Interphalangeal joint contracture of finger Abnormality of cardiovascular system morphology Low-set ears Syndactyly Strabismus High palate Generalized hypotonia Downslanted palpebral fissures Hypertelorism Low-set, posteriorly rotated ears Intrauterine growth retardation Broad forehead Pectus excavatum Constipation Abnormal cardiac septum morphology Abnormality of the skeletal system Joint laxity Muscular hypotonia Myopia Microcephaly Hernia Inguinal hernia Retrognathia Hydronephrosis Posteriorly rotated ears Telecanthus Hearing impairment Clinodactyly Protruding ear Coarctation of aorta Pectus carinatum Horseshoe kidney Ventriculomegaly Frontal bossing Disproportionate tall stature Short nose Camptodactyly of finger Respiratory distress Short neck Mitral valve prolapse Umbilical hernia Metatarsus adductus Talipes Dilatation Arthrogryposis multiplex congenita Abnormality of the kidney Joint stiffness Osteopenia Pulmonary hypoplasia Anteverted nares Prominent forehead

Rare Symptoms - Less than 30% cases

Respiratory failure Severe short stature Blepharophimosis Fragile skin Hypoplasia of the corpus callosum Adducted thumb Vesicoureteral reflux Ectopia lentis Abnormality of the sternum Recurrent urinary tract infections Aortic aneurysm Congenital contracture Bowing of the long bones Mitral regurgitation Dolichocephaly Abnormality of the pinna Kyphoscoliosis Slender finger Motor delay Pain Aortic root aneurysm Feeding difficulties Distal arthrogryposis Joint hypermobility Absent septum pellucidum High, narrow palate Blue sclerae Microretrognathia Narrow palate Hiatus hernia Joint contracture of the hand Hyperextensible skin Bilateral talipes equinovarus Bifid uvula Finger clinodactyly Macrocephaly Cupped ear Dandy-Walker malformation Aplasia/Hypoplasia of the abdominal wall musculature Depressed nasal bridge Short stature Respiratory insufficiency Hydrocephalus Choanal atresia Abnormality of the genital system Polymicrogyria Thin skin Volvulus Short philtrum Abnormality of the foot Narrow mouth Renal agenesis Proptosis Narrow chest Wide anterior fontanel Conductive hearing impairment Relative macrocephaly Dermal translucency Large earlobe Abnormality of the nose Abnormal cortical gyration Abdominal situs inversus Intestinal pseudo-obstruction Microcolon Urinary retention Pollakisuria Peritonitis Micromelia Achalasia Chronic constipation Episodic abdominal pain Hyperparathyroidism Hydroureter Anonychia Malnutrition Prune belly Generalized osteosclerosis Intestinal obstruction Portal hypertension Hypoalbuminemia Anomalous pulmonary venous return External ophthalmoplegia Osteopetrosis Abnormality of neuronal migration Submucous cleft hard palate Nystagmus Toe syndactyly Rigidity Agenesis of corpus callosum Clinodactyly of the 5th finger Splenomegaly Hypertonia Epicanthus Limb undergrowth Ambiguous genitalia Status epilepticus Pachygyria Spasticity Rhizomelia Increased bone mineral density Megacystis Seizures Muscle stiffness Megaduodenum Lissencephaly Aplasia/Hypoplasia of the corpus callosum Hypoperistalsis Renal hypoplasia/aplasia Dermal atrophy Gastrointestinal obstruction Partial agenesis of the corpus callosum Neuroma Aplasia/Hypoplasia of the skin Barrett esophagus Urethral obstruction Long nose Glaucoma Gingival fibromatosis Dental malocclusion Elbow dislocation Metaphyseal widening Arnold-Chiari malformation Infantile muscular hypotonia Aortic regurgitation Amblyopia Abnormal form of the vertebral bodies Abnormality of the metaphysis Hypoplasia of the maxilla Thin ribs Joint hyperflexibility Genu valgum Craniosynostosis Feeding difficulties in infancy Apnea Pes planus High forehead Gastroesophageal reflux Cognitive impairment Hammertoe Dislocated radial head Abnormality of the duodenum Lateral clavicle hook Minimal subcutaneous fat Hallux varus Cranial asymmetry Abdominal wall muscle weakness Atlantoaxial dislocation Dural ectasia Arterial tortuosity Gastroparesis Supernumerary ribs Abnormal aortic valve morphology Anteriorly placed anus Cloverleaf skull Spondylolisthesis Communicating hydrocephalus Missing ribs Genu recurvatum Microglossia Obstructive sleep apnea Shallow orbits Arnold-Chiari type I malformation Ptosis Hyperalgesia Ambiguous genitalia, male Thin upper lip vermilion High myopia Nephrotic syndrome Microcornea Tapered finger Retinal detachment Bruising susceptibility Thick eyebrow Facial asymmetry Scarring Long philtrum Nephrolithiasis Muscle weakness 2-4 toe syndactyly Hypoplastic nasal bridge Alveolar ridge overgrowth Abnormality of cholesterol metabolism Macrogyria Ambiguous genitalia, female Total anomalous pulmonary venous return Abnormality of earlobe Large fontanelles Exotropia Decreased palmar creases Abnormality of the mouth Talipes valgus Flat forehead Endocarditis Abnormal anterior chamber morphology Pneumothorax Ecchymosis Generalized joint laxity Diastasis recti Low hanging columella Prolonged bleeding time Low anterior hairline Atrophic scars Delayed cranial suture closure Abnormality of the coagulation cascade Cerebral hemorrhage Bilateral cryptorchidism Pterygium Recurrent skin infections Cutis laxa Joint dislocation Pancreatitis Pyloric stenosis Aganglionic megacolon Arachnoid cyst Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Tetralogy of Fallot Pulmonic stenosis Microphthalmia Wide nasal bridge Carious teeth Broad neck Protruding tongue Renal hypoplasia Broad hallux Overlapping toe Low posterior hairline Convex nasal ridge Broad nasal tip Short distal phalanx of finger Poor speech Upslanted palpebral fissure Intellectual disability, profound Abnormal lung morphology Anal atresia Diaphragmatic eventration Pulmonary artery hypoplasia Renal malrotation Pelvic kidney Single ventricle Overriding aorta Annular pancreas Abnormality of the diaphragm Duodenal stenosis Bilateral microphthalmos Abnormality of the genitourinary system Bicornuate uterus Abnormality of the uterus Pulmonary artery atresia Truncus arteriosus Hypoplasia of the uterus Rocker bottom foot Anophthalmia Optic nerve hypoplasia Cerebellar hypoplasia Dental crowding Right aortic arch with mirror image branching Jaundice Renal dysplasia Cholestasis Oligohydramnios Renal cyst Postaxial polydactyly Hepatic failure Cirrhosis Stage 5 chronic kidney disease Acidosis Aortic valve stenosis Polydactyly Diabetes mellitus Renal insufficiency Hepatomegaly Short chin Cutis marmorata Narrow maxilla Soft skin Hepatic fibrosis Situs inversus totalis Pointed chin Pancreatic cysts Pancreatic dysplasia Ureteral atresia Multiple glomerular cysts Glutaric acidemia Pancreatic fibrosis Potter facies Portal fibrosis Hepatic cysts Short sternum Spontaneous abortion Bile duct proliferation Biliary cirrhosis Asplenia Polysplenia Enlarged kidney Preauricular pit Polycystic kidney dysplasia Type I diabetes mellitus Bilateral lung agenesis Mild intrauterine growth retardation Overgrowth Radioulnar synostosis Mandibulofacial dysostosis Conical tooth Eyelid coloboma Anencephaly Non-midline cleft lip Supernumerary nipple Hypoplasia of the ulna Ectropion Narrow nose Ectropion of lower eyelids Hypoplasia of the radius Abnormal dermatoglyphics Congenital hip dislocation Short thumb Depressed nasal ridge Premature birth Cleft upper lip Finger syndactyly Abnormality of the middle ear Acrania Coloboma Pneumonia Round face Abdominal distention Ophthalmoplegia Prominent nasal bridge Abnormality of the liver Polyhydramnios Weight loss Abdominal pain Diarrhea Supernumerary vertebrae Vomiting Myopathy Dysphagia Skeletal muscle atrophy Fever Peripheral neuropathy Hypertension Midgut malrotation Microtia Postnatal growth retardation Aplasia/Hypoplasia of the pancreas Chest pain Abnormality of the musculature Decreased muscle mass Tracheoesophageal fistula Clubbing Bicuspid aortic valve Knee flexion contracture Elbow flexion contracture Abnormal vertebral morphology Vertigo Ulnar deviation of finger Arrhythmia Kyphosis Deeply set eye Fatigue Agenesis of pulmonary vessels Abnormal spleen morphology Hypoplastic left atrium Hypoplastic spleen Keratoconus Hip contracture Cleft lip Lens subluxation Micropenis Malar flattening Calf muscle hypoplasia Congenital kyphoscoliosis Abnormally folded helix Crumpled ear Patellar subluxation Iridodonesis Spinal deformities Esophageal atresia Hypoplasia of the musculature Interrupted aortic arch Slender build Duodenal atresia Abnormally large globe Single umbilical artery Patellar dislocation Megalocornea Scaphocephaly C1-C2 vertebral abnormality


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