Flexion contracture, and Inguinal hernia

Diseases related with Flexion contracture and Inguinal hernia

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

Top matches:

Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Low match BRUCK SYNDROME

Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures.

BRUCK SYNDROME Is also known as osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRUCK SYNDROME

Other less relevant matches:

ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).

CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME Is also known as congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL ICHTHYOSIS-INTELLECTUAL DISABILITY-SPASTIC QUADRIPLEGIA SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

De Barsy syndrome, also known as autosomal recessive cutis laxa type III (ARCL3), is a rare autosomal recessive disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation (IUGR), and cutis laxa (summary by Lin et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of de Barsy syndrome, see {219150}.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219200}.

PYCR1-RELATED DE BARSY SYNDROME Is also known as pycr1 deficiency|pyrroline-5-carboxylate reductase 1 deficiency|de barsy syndrome b

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYCR1-RELATED DE BARSY SYNDROME

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Low match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Inguinal hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Camptodactyly Scoliosis Talipes equinovarus Elbow flexion contracture Long philtrum Adducted thumb Bilateral talipes equinovarus Generalized hypotonia Hypertonia Hypertelorism Joint stiffness Deeply set eye Cerebral atrophy

Rare Symptoms - Less than 30% cases

Osteoporosis Respiratory insufficiency Strabismus Ptosis Fine hair Knee flexion contracture Delayed speech and language development Micrognathia Growth delay Myopia Thin vermilion border Spasticity Macrocephaly Prominent forehead Abnormal facial shape Triangular face Arachnodactyly Arthrogryposis multiplex congenita Umbilical hernia Delayed myelination Protruding ear Motor delay Macrotia Blue sclerae High palate Respiratory distress Hyperreflexia Athetosis Congenital glaucoma Excessive wrinkled skin Narrow nasal ridge Intrauterine growth retardation Dermal translucency Sensorineural hearing impairment Pyloric stenosis Ventriculomegaly Hydrocephalus Intellectual disability, severe Mitral valve prolapse Muscular hypotonia Hyperextensible skin Mitral regurgitation Hip dislocation Posteriorly rotated ears Pes planus Hypoplasia of the musculature Facial hypotonia Sparse hair Fragile skin Blepharophimosis Underdeveloped nasal alae Dental crowding Thin skin Patent foramen ovale Large fontanelles Narrow palpebral fissure Cutis laxa Delayed gross motor development Joint dislocation Glaucoma Cerebral calcification Cerebellar hypoplasia Tall stature Feeding difficulties in infancy Camptodactyly of finger Broad forehead Finger syndactyly Joint hyperflexibility Round face Hypoplasia of penis Abnormality of the metaphysis Broad thumb Hoarse voice Retrognathia Abnormality of the fingernails Accelerated skeletal maturation Sandal gap Deep philtrum Redundant skin Large hands Hypoplastic toenails Broad foot Thin nail Deep-set nails Low-set, posteriorly rotated ears Pes cavus Dementia Neurodegeneration Cerebral cortical atrophy Gait ataxia Mandibular prognathia High forehead Coarse facial features Difficulty walking Aggressive behavior Wide mouth Long face Thick vermilion border Prominent nose Abnormality of cardiovascular system morphology Dandy-Walker malformation Bruising susceptibility Choreoathetosis Narrow face Pointed chin Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Generalized muscle weakness Neonatal respiratory distress Joint hypermobility Cataract Recurrent fractures Bowing of the long bones Wormian bones Pterygium Increased susceptibility to fractures Femoral bowing Hydroxyprolinuria Microcephaly Hyperkeratosis Pectus carinatum Photophobia Pallor Erythema Dry skin Ichthyosis Tetraplegia Generalized myoclonic seizures Asthma Platyspondyly Osteopenia Spastic tetraplegia Tremor Optic atrophy Pectus excavatum Ophthalmoplegia Abnormal electroretinogram Deviation of finger Dimple chin Congenital finger flexion contractures Absent palmar crease Encephalopathy Kyphosis Myoclonus Respiratory failure Kyphoscoliosis Rigidity Hypsarrhythmia Brisk reflexes Distal arthrogryposis Exaggerated startle response Short stature Brain atrophy High myopia Talipes Muscle weakness Full cheeks Congenital contracture Visual impairment Hip contracture Short columella Breathing dysregulation Pursed lips Enlarged naris Pain Abnormality of the foot Frontal bossing Myopathy Midface retrusion Brachycephaly Narrow mouth Arthralgia Myalgia Telecanthus Scarring Poor speech Gastroesophageal reflux Intellectual disability, profound Prominent nasal bridge Aspiration Scaling skin Abnormality of visual evoked potentials Drusen Feeding difficulties Hypoplasia of the corpus callosum Atrial septal defect Hypospadias Dolichocephaly Cerebellar atrophy Smooth philtrum Astigmatism Bulbous nose Supernumerary nipple Prominent metopic ridge Low hanging columella Square face Wide nasal bridge Short neck Abnormally low-pitched voice


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