Flexion contracture, and Sepsis

Diseases related with Flexion contracture and Sepsis

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


Top matches:

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5


Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5 Is also known as ichthyosis congenita iii|ichthyosis, lamellar, 3, formerly|li3, formerly|nnci|ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive

Related symptoms:

  • Flexion contracture
  • Renal insufficiency
  • Alopecia
  • Hyperkeratosis
  • Erythema


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5; ARCI5

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

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Other less relevant matches:

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Low match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

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

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Retrognathia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Low-set ears Micropenis Depressed nasal bridge High palate Growth delay Scarring Short stature Camptodactyly Micrognathia Pneumonia Short nose Hyperreflexia Hyperkeratosis Hypoplasia of the corpus callosum Ventricular septal defect Wide nasal bridge Cataract Alopecia Polyhydramnios Global developmental delay Narrow mouth Pain Hearing impairment Dehydration Nail dystrophy Increased body weight

Rare Symptoms - Less than 30% cases


Widely spaced teeth Hypotrichosis Hernia Congestive heart failure Atrial septal defect Short distal phalanx of finger Sparse hair Talipes equinovarus Motor delay Blindness Large fontanelles Patent ductus arteriosus Ichthyosis Cryptorchidism Inflammatory abnormality of the skin Microdontia Progeroid facial appearance Insulin resistance Tall stature Postnatal growth retardation Inguinal hernia Hepatomegaly Hypospadias Abnormal facial shape Conjunctivitis Muscle weakness Cleft lip Muscular hypotonia of the trunk Prominent forehead Posteriorly rotated ears Cerebral atrophy Anteverted nares Visual impairment Hyperpigmentation of the skin Abnormality of the dentition Dental crowding Disproportionate tall stature Convex nasal ridge Gliosis Intellectual disability Scoliosis Neoplasm Cleft palate Prominent occiput Renal insufficiency Palmoplantar keratoderma Thin skin Limitation of joint mobility Recurrent pneumonia Gait disturbance Spasticity Ataxia Erythema Hypermelanotic macule Skin erosion Glomerulosclerosis Neonatal hypotonia Microtia Abnormality of the nervous system Osteoporosis Respiratory failure Anemia Orthokeratosis Myopathy Edema Anhidrosis Absent eyebrow Erythroderma Epidermal acanthosis Kyphoscoliosis Small nail Overgrowth Nephrotic syndrome Gastrointestinal hemorrhage Abnormality of the skeletal system Pectus excavatum Spina bifida occulta Abnormality of the kidney Proximal muscle weakness Rigidity Proptosis Diabetes mellitus Progressive congenital scoliosis Hypertension Joint dislocation Spontaneous rupture of the globe Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Torticollis Glaucoma Joint stiffness Abnormality of metabolism/homeostasis Wrist drop Respiratory insufficiency Round face High myopia Epicanthus Full cheeks Decreased fetal movement Oligohydramnios Mitral valve prolapse Myopia Respiratory distress Paralysis Abnormality of skin pigmentation Joint contracture of the hand Delayed puberty Spina bifida Kyphosis Dilatation Hyperbilirubinemia Muscular dystrophy Aortic regurgitation Osteopenia Corneal dystrophy Generalized muscle weakness Aortic root aneurysm Joint hyperflexibility Keratoconus Slender finger Talipes Arachnodactyly Unsteady gait Abnormal bleeding Abnormality of the hip bone Soft skin Joint hypermobility Bruising susceptibility Aortic aneurysm Microcornea Single transverse palmar crease Atrophic scars Polyneuropathy Heart murmur Intracranial hemorrhage Atypical scarring of skin Retinal detachment Palmoplantar cutis laxa Pes planus Premature rupture of membranes Hyperextensible skin Joint laxity Hyperlordosis Retinopathy Pectus carinatum Dolichocephaly Arterial dissection Aortic dissection Dural ectasia Blue sclerae Esotropia Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Keloids Osteolytic defects of the phalanges of the hand Dental malocclusion Cirrhosis Limb undergrowth Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Vesicoureteral reflux Delayed myelination Generalized myoclonic seizures Hemolytic anemia Downturned corners of mouth Wide nose Hepatic failure Abnormality of eye movement Hypsarrhythmia Stroke Wide mouth Developmental regression Apnea Abnormality of the eye Coarse facial features Cerebral cortical atrophy Upslanted palpebral fissure Myoclonus Cerebellar hypoplasia Encephalopathy Obesity Generalized-onset seizure Postnatal microcephaly Malar flattening Cardiorespiratory arrest Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Micronodular cirrhosis Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation High anterior hairline Pierre-Robin sequence Gingival overgrowth Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Large for gestational age Overfolded helix Scaling skin Redundant skin Elevated alkaline phosphatase Deep philtrum Multicystic kidney dysplasia Cerebral visual impairment Absent speech Long philtrum Abnormality of the skin Hyperostosis Insulin-resistant diabetes mellitus Premature loss of teeth Short clavicles Arthropathy Prematurely aged appearance Spinal rigidity Reduced subcutaneous adipose tissue Delayed cranial suture closure High pitched voice Glucose intolerance Focal segmental glomerulosclerosis Hyperglycemia Down-sloping shoulders Congenital muscular dystrophy Hyperinsulinemia Lipodystrophy Dermal atrophy Hyperlipidemia Atherosclerosis Acanthosis nigricans Osteolysis Wormian bones Sparse scalp hair Hypertriglyceridemia Abnormality of the cardiovascular system Narrow nose Vertebral compression fractures Cerebellar atrophy Aplasia/Hypoplasia of the clavicles Short neck Macrocephaly Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Increased adipose tissue around the neck Osteolytic defects of the distal phalanges of the hand Calcinosis Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Broad distal phalanx of finger Hypoplasia of teeth Prominent superficial veins Muscular hypotonia Pallor Pharyngitis Blepharophimosis Mask-like facies Focal impaired awareness seizure Cutis laxa Narrow palpebral fissure Pointed chin Sloping forehead Focal-onset seizure Triangular face Polymicrogyria Bulbous nose Protruding ear Bundle branch block Hypertrophic cardiomyopathy Macrotia Cardiomyopathy Ventriculomegaly Downslanted palpebral fissures Delayed speech and language development Strabismus Premature graying of body hair Hyperpigmentation in sun-exposed areas Hyperpigmented nevi Silver-gray hair Right bundle branch block Entropion Flexion contracture of toe Interphalangeal joint contracture of finger Delayed CNS myelination Widow's peak Prominent metopic ridge Hyperactive deep tendon reflexes Poor eye contact Global brain atrophy Aplasia/Hypoplasia of the corpus callosum Wide anterior fontanel Thick lower lip vermilion Cerebellar vermis hypoplasia Narrow forehead Cavum septum pellucidum Dandy-Walker malformation Brain atrophy Everted lower lip vermilion High, narrow palate Camptodactyly of finger Abnormal cardiac septum morphology Abnormality of the pinna Gastroesophageal reflux Microphthalmia Narrow naris Wide nasal base Bowel urgency Multiple lentigines Hand clenching Premature birth Abnormality of the stomach Ureterocele Oral mucosal blisters Aplasia cutis congenita Fragile skin Skin vesicle Abnormality of the outer ear Renal dysplasia Abnormal blistering of the skin Underdeveloped nasal alae Hydronephrosis Congenital pyloric atresia Deeply set eye Dysphagia Hypernatremic dehydration Eclabion Subungual hyperkeratosis Congenital nonbullous ichthyosiform erythroderma Acanthocytosis Parakeratosis Acute kidney injury Congenital ichthyosiform erythroderma Ectropion Aplasia of the bladder Cognitive impairment Progressive spastic paraparesis Narrow face White hair Vitiligo Progressive spastic paraplegia Axonal degeneration Premature graying of hair Bowel incontinence Abnormality of the genitourinary system Spastic paraparesis Paraparesis Horseshoe kidney Cafe-au-lait spot Peripheral neuropathy Spastic gait Febrile seizures Waddling gait Sensory impairment Nevus Hypopigmentation of the skin Lower limb muscle weakness Paraplegia Spastic paraplegia Hip dislocation Babinski sign Interrupted aortic arch Feeding difficulties Serositis Infertility Long eyelashes Optic disc pallor Eczema Aciduria Migraine Abdominal distention Retinal dystrophy Nausea Lymphadenopathy Vertigo Papule Purpura Cough Skin rash Nyctalopia Arthritis Myalgia Hepatosplenomegaly Arthralgia Abdominal pain Hyperhidrosis Rod-cone dystrophy Constipation Vasculitis Urticaria Headache Large forehead Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Acrocyanosis Apathy Posterior subcapsular cataract Poor coordination Peripheral visual field loss Uveitis Episodic fever Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Leukocytosis Intestinal obstruction Depressivity Splenomegaly Syndactyly Hypohidrosis Agenesis of permanent teeth Supernumerary nipple Anonychia 2-3 toe syndactyly Hammertoe Brittle hair Atresia of the external auditory canal Sparse eyelashes Hoarse voice Sinusitis Choanal atresia Keratoconjunctivitis sicca Recurrent otitis media Split hand Fine hair Otitis media Ectodermal dysplasia Hypodontia Hypoplasia of the maxilla Cleft upper lip Oral cleft Toe syndactyly Conductive hearing impairment Sparse body hair Ectrodactyly Diarrhea Patchy alopecia Vomiting Frontal bossing Fatigue Fever Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Oval face Pustule Hyperconvex nail Ankyloblepharon Plantar hyperkeratosis Selective tooth agenesis Conical tooth Pili torti Heat intolerance Trismus Chronic sinusitis Absent eyelashes Blepharitis Abnormality of the pons



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Facial asymmetry, related diseases and genetic alterations Hyperreflexia and Facial asymmetry, related diseases and genetic alterations Flexion contracture and Focal seizures, related diseases and genetic alterations

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