Flexion contracture, and Renal insufficiency

Diseases related with Flexion contracture and Renal insufficiency

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

Top matches:

Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as glycogen storage disease type 5|myophosphorylase deficiency|glycogen storage disease type v|muscle glycogen phosphorylase deficiency|gsd due to muscle glycogen phosphorylase deficiency|mcardle disease|gsd type v|glycogenosis type 5|glycogenosis type v|gsd

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY

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 HANAC SYNDROME

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Other less relevant matches:

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA Is also known as inverse recessive dystrophic epidermolysis bullosa|rdeb-i|dystrophic epidermolysis bullosa inversa|inverse rdeb

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA INVERSA

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Renal insufficiency

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Nephropathy Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Intellectual disability Global developmental delay Arthralgia Generalized hypotonia Dysphagia Cataract Anemia

Rare Symptoms - Less than 30% cases

Abnormality of epiphysis morphology Myalgia Visual impairment Hypotelorism Recurrent urinary tract infections Hematuria Renal cyst Acute kidney injury Muscle cramps Vomiting Constipation Short stature Seizures Respiratory failure Elevated serum creatine phosphokinase Myopathy Abnormality of the skin Osteolysis Multiple lipomas Scleroderma Renal hypoplasia Skeletal muscle atrophy Strabismus Muscle weakness Telecanthus Abnormality of the dentition Palmoplantar keratoderma Complete duplication of the distal phalanges of the hand Respiratory insufficiency Short neck Atypical scarring of skin Abnormal axial skeleton morphology Micrognathia Corneal opacity Cardiomyopathy Wide nasal bridge Abnormal aortic morphology Hepatomegaly Gait disturbance Peripheral neuropathy Feeding difficulties Hypoplasia of the corpus callosum Cerebral atrophy Generalized hypopigmentation Cerebral cortical atrophy Arthrogryposis multiplex congenita Generalized limb muscle atrophy Lethargy Neonatal hypotonia Abnormal bone structure Acidosis Myoclonus Diffuse skin atrophy Hyporeflexia Areflexia Encephalopathy Osteopoikilosis Absent speech Connective tissue nevi Generalized osteosclerosis Failure to thrive Pulmonic stenosis Limitation of joint mobility Abnormality of the foot Osteopenia Cachexia EMG abnormality Interphalangeal joint contracture of finger Proteinuria Abnormal cortical bone morphology Proptosis Retinopathy Camptodactyly of finger Triangular face Hypoplasia of the maxilla Downturned corners of mouth Stage 5 chronic kidney disease Polyhydramnios Elevated alkaline phosphatase Microcephaly Ankle swelling Osteolysis involving tarsal bones Wrist swelling Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Doll-like facies Hypertensive retinopathy Rheumatoid arthritis Azotemia Ulnar deviation of the hand or of fingers of the hand Pes cavus Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Ulnar deviation of the hand Failure to thrive in infancy Lactic acidosis Abnormality of the fingernails Narrow nasal bridge Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the thorax Abnormality of the urinary system Cutaneous syndactyly Narrow palpebral fissure Hypoplastic nipples Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Hypohidrosis Fine hair Renal agenesis Nail dysplasia Aplasia cutis congenita Palpebral edema Delayed eruption of teeth Breast aplasia Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Small earlobe Short columella Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Eyelid coloboma Abnormality of the antihelix Vesicoureteral reflux Iris coloboma Hepatic steatosis CNS hypomyelination Breech presentation Increased CSF lactate Hypoventilation Renal tubular acidosis Hyperkalemia Hyponatremia Chronic kidney disease Severe muscular hypotonia Microvesicular hepatic steatosis Fasciculations Decreased liver function Renal dysplasia Pachygyria Epileptic encephalopathy Increased serum lactate Delayed myelination Tongue fasciculations Abnormal facial shape Dry skin Abnormality of the pinna Congenital cataract Finger syndactyly Microtia Coloboma Blepharophimosis Sparse hair Protruding ear Abnormality of the kidney Low-set ears Camptodactyly Mandibular prognathia Hyperhidrosis Syndactyly Anteverted nares Myopia Epicanthus Depressed nasal bridge Cutaneous finger syndactyly Excessive purine production Hyperostosis Raynaud phenomenon Perivascular spaces Macroscopic hematuria Arterial tortuosity Retinal hemorrhage Retinal vascular tortuosity Supraventricular arrhythmia Microscopic hematuria Retinal arterial tortuosity Multiple renal cysts Hypoplasia of the iris Posterior embryotoxon Dilatation of the cerebral artery Cerebral hemorrhage Hemiplegia Ischemic stroke Retinal arteriolar tortuosity Diarrhea Stroke Telangiectasia Oliguria Osteolytic defects of the phalanges of the hand Pulmonary infiltrates Xerostomia Telangiectasia of the skin Pulmonary fibrosis Skin ulcer Pulmonary arterial hypertension Congestive heart failure Nausea and vomiting Malabsorption Carious teeth Autoimmunity Gastroesophageal reflux Dyspnea Weight loss Leukoencephalopathy Arrhythmia Decreased urine output Dark urine Erythema Hyperkeratosis Alopecia Exercise-induced rhabdomyolysis Acute rhabdomyolysis Exercise-induced muscle cramps Exercise-induced myalgia Ichthyosis Myoglobinuria Rhabdomyolysis Exercise intolerance Muscle stiffness Progressive muscle weakness Abnormality of the cardiovascular system Fatigue Scarring Sepsis Visual loss Congenital nonbullous ichthyosiform erythroderma Dilatation Headache Cerebellar atrophy Hypernatremic dehydration Orthokeratosis Eclabion Subungual hyperkeratosis Acanthocytosis Dehydration Parakeratosis Congenital ichthyosiform erythroderma Anhidrosis Absent eyebrow Erythroderma Ectropion Epidermal acanthosis Dyspareunia Hypertensive crisis Flat occiput Oral-pharyngeal dysphagia Gout Self-mutilation Hyperuricemia Opisthotonus Athetosis Proximal placement of thumb Self-injurious behavior Dyslexia Cerebral palsy Finger clinodactyly Spastic gait Stereotypy Nephrolithiasis Clumsiness Choreoathetosis Megaloblastic anemia Focal dystonia Chorea Recurrent fractures Hemangioma Hoarse voice Bone pain Lymphedema Subcutaneous nodule Abnormality of the metaphysis Nevus Papule Testicular atrophy Craniosynostosis Joint stiffness Skeletal dysplasia Podagra Bladder stones Hyperuricosuria Facial grimacing Abnormality of extrapyramidal motor function Hip dislocation Narrow foramen obturatorium Atrophic scars Squamous cell carcinoma of the skin Ankyloglossia Abnormal vagina morphology Corneal erosion Stenosis of the external auditory canal Microglossia Milia Esophageal stricture Keratitis Recurrent skin infections Abnormal blistering of the skin Dilated cardiomyopathy Narrow mouth Growth delay Abnormal bowel sounds Skin erosion Tongue atrophy Irritability Hypertonia Aggressive behavior Rigidity Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Dystonia Behavioral abnormality Dysarthria Oral mucosal blisters Hyperreflexia Motor delay Delayed speech and language development Spasticity Muscular hypotonia Scoliosis Abnormality of the anus Duplication of renal pelvis


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