Flexion contracture, and Bruising susceptibility

Diseases related with Flexion contracture and Bruising susceptibility

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


Top matches:

Low match BERNARD-SOULIER SYNDROME


Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

BERNARD-SOULIER SYNDROME Is also known as glycoprotein ib, platelet, deficiency of|von willebrand factor receptor deficiency|bdplt1|giant platelet syndrome|hemorrhagiparous thrombocytic dystrophy|bleeding disorder, platelet-type, 1|platelet glycoprotein ib deficiency

Related symptoms:

  • Thrombocytopenia
  • Arthrogryposis multiplex congenita
  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis


SOURCES: OMIM ORPHANET MENDELIAN

More info about BERNARD-SOULIER SYNDROME

Low match HEMOPHILIA A; HEMA


Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2


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

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Other less relevant matches:

Low match EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Low match PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME


Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

Low match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Low match EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE


Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.

EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE Is also known as ehlers-danlos syndrome, periodontitis type|ehlers-danlos syndrome, periodontosis type|ehlers-danlos syndrome, type viii|ehlers-danlos syndrome type 8|eds viii|eds8

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTITIS TYPE

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Low match LOEYS-DIETZ SYNDROME


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

Top 5 symptoms//phenotypes associated to Flexion contracture and Bruising susceptibility

Symptoms // Phenotype % cases
Pes planus Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Arachnodactyly Common - Between 50% and 80% cases
Blue sclerae Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hyperextensible skin Hernia Mitral valve prolapse Cutis laxa Joint hypermobility Soft skin Joint laxity Umbilical hernia Dilatation Pain Downslanted palpebral fissures Patent ductus arteriosus Thin skin Mitral regurgitation Joint dislocation Striae distensae Tall stature Dural ectasia Myopia Hypertelorism Aortic aneurysm Talipes equinovarus Osteoarthritis Osteoporosis Scarring Joint hyperflexibility Pectus excavatum Camptodactyly Arthralgia Subarachnoid hemorrhage

Rare Symptoms - Less than 30% cases


Myalgia Aortic root aneurysm Disproportionate tall stature Osteopenia Ectopia lentis Fragile skin High myopia Atrophic scars Short stature Growth delay Proptosis Camptodactyly of finger Abnormal joint morphology Craniosynostosis Retrognathia Bifid uvula Dental malocclusion Waddling gait Failure to thrive Arthrogryposis multiplex congenita Cigarette-paper scars Muscular dystrophy Edema Abnormality of the sternum Abnormality of the dentition Dilatation of the cerebral artery Aortic dissection Thoracic aortic aneurysm Arthritis Gait disturbance Arterial tortuosity Micrognathia Pulmonic stenosis Microcornea Increased susceptibility to fractures Abnormal bleeding Bicuspid aortic valve Spondylolisthesis Muscle weakness Myopathy Cleft palate Sensorineural hearing impairment Hearing impairment Motor delay Abnormal facial shape Hypermelanotic macule Flat cornea Shoulder dislocation Premature loss of teeth Corneal erosion Corneal scarring Decreased corneal thickness Gingival bleeding Hoarse voice Gingivitis Osteolysis Periodontitis Generalized joint laxity Keratoglobus Gingival overgrowth Dermal atrophy Abnormality of hair pigmentation Neoplasm Skin vesicle Recurrent infections Long nose Fine hair Erythema Mitral stenosis Microdontia Carious teeth Autoimmunity Agenesis of permanent teeth Urticaria Vasculitis Thrombocytopenia Chronic pain Hip osteoarthritis Aortic rupture Abnormality of the skeletal system Atrial septal defect Headache Migraine Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Aortic regurgitation Back pain Slender finger Low back pain Osteochondritis Dissecans Abdominal aortic aneurysm Arterial rupture Protrusio acetabuli Intervertebral disc degeneration Uterine prolapse Knee osteoarthritis Malar flattening Pectus carinatum Dolichocephaly Oral cleft Cardiac arrest Emphysema Atypical scarring of skin Pneumothorax Arterial dissection Abnormal eye morphology High-frequency sensorineural hearing impairment Premature loss of primary teeth Elevated serum creatine phosphokinase Poor wound healing Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Atrophy of alveolar ridges Alveolar bone loss around teeth Generalized hypotonia Muscular hypotonia Epicanthus Skeletal muscle atrophy Cardiomyopathy Hyperkeratosis Keloids Kyphoscoliosis Abnormality of the foot Sloping forehead Hypotelorism Severe muscular hypotonia Poor head control Easy fatigability Poor suck Congenital muscular dystrophy Difficulty climbing stairs Follicular hyperkeratosis Cleft soft palate Bladder diverticulum Sclerocornea Narrow nose Megalocornea Cerebral atrophy Reduced factor VIII activity Intraventricular hemorrhage Persistent bleeding after trauma Intramuscular hematoma Oral cavity bleeding Bleeding with minor or no trauma Splenic rupture Global developmental delay Frontal bossing Long philtrum Midface retrusion Joint hemorrhage Brachycephaly Narrow mouth Telecanthus Protruding ear Talipes Generalized muscle weakness Dental crowding Delayed gross motor development Adducted thumb Patent foramen ovale Bilateral talipes equinovarus Spontaneous hematomas Stomatitis Hypoplasia of the musculature Decreased platelet glycoprotein IIb-IIIa Epistaxis Cholestasis Purpura Menorrhagia Petechiae Prolonged bleeding time Abnormality of abdomen morphology Lymphoproliferative disorder Abnormal thrombocyte morphology Increased mean platelet volume Abnormal platelet morphology Anemia Prolonged partial thromboplastin time Peripheral neuropathy Blindness Stroke Hematuria Gastrointestinal hemorrhage Intracranial hemorrhage Arthropathy Thromboembolism Joint swelling Abnormality of the elbow Dyschromatopsia Facial hypotonia Skeletal dysplasia Keratoconus Prominent scalp veins Increased body weight Relative macrocephaly Lipodystrophy Reduced subcutaneous adipose tissue Scaphocephaly Severe intrauterine growth retardation Progeroid facial appearance Entropion Hyperextensibility of the finger joints Pes valgus Narrow palm Visual loss Premature birth Glaucoma Conductive hearing impairment Neonatal hypotonia Hip dislocation Retinal detachment Recurrent fractures Hip dysplasia Abnormality of epiphysis morphology Congenital hip dislocation Corneal dystrophy Hallux valgus Oligohydramnios High, narrow palate Postnatal growth retardation Prominent superficial veins Platyspondyly Tapered finger Delayed eruption of teeth Hypodontia Short metacarpal Abnormality of the metaphysis Short phalanx of finger Joint contracture of the hand Metaphyseal widening Short femoral neck Irregular vertebral endplates Broad femoral neck Prominent nasal bridge Flat capital femoral epiphysis Flattened epiphysis Thenar muscle atrophy Moderately short stature Absent palmar crease Hypertension Intrauterine growth retardation Macrocephaly Hydrocephalus Prominent forehead Gastroesophageal reflux Uterine rupture



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