Edema, and Joint hypermobility

Diseases related with Edema and Joint hypermobility

In the following list you will find some of the most common rare diseases related to Edema and Joint hypermobility that can help you solving undiagnosed cases.

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).

HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome

Related symptoms:

  • Intellectual disability
  • Coarse facial features
  • Blepharophimosis
  • Joint hyperflexibility
  • Bulbous nose


SOURCES: ORPHANET MENDELIAN

More info about HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Other less relevant matches:

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA SYNDROME

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

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

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

Top 5 symptoms//phenotypes associated to Edema and Joint hypermobility

Symptoms // Phenotype % cases
Joint hyperflexibility Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Blue sclerae Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Joint hypermobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hyperextensible skin Glaucoma Skeletal dysplasia Bruising susceptibility Scoliosis Soft skin Micrognathia Hypertelorism Gingival overgrowth Hydrocephalus Blepharophimosis

Rare Symptoms - Less than 30% cases

Growth delay Strabismus Generalized hypotonia Intrauterine growth retardation Global developmental delay Sensorineural hearing impairment Myopia Inguinal hernia Downslanted palpebral fissures Increased susceptibility to fractures Joint laxity Camptodactyly Arachnodactyly Cutis laxa High palate Severe short stature Osteoporosis Kyphosis Frontal bossing Macrocephaly Brachydactyly Umbilical hernia Abnormality of the metaphysis Muscular hypotonia Pes planus Recurrent fractures Microdontia Hernia Flat face Abnormality of the dentition Abnormality of the kidney Proptosis Hypertension Vasculitis Proteinuria Renal insufficiency Cataract Nephropathy Long nose Osteoarthritis Palpebral edema Joint dislocation Everted lower lip vermilion Bulbous nose Coarse facial features Retinal detachment Patent ductus arteriosus Atrial septal defect Ureterovesical junction obstruction Respiratory insufficiency Gait disturbance Ventriculomegaly Depressed nasal bridge Cognitive impairment Morning glory anomaly Recurrent pyelonephritis Pectus excavatum Macular hyperpigmentation Visual loss Orbital cyst Renal malrotation Scleral staphyloma Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Lens luxation Cleft palate Encephalocele Polyhydramnios Platyspondyly Decreased fetal movement Acanthosis nigricans Holoprosencephaly Limitation of joint mobility Redundant skin Metaphyseal irregularity Abnormality of neuronal migration Flared metaphysis Micromelia Short thorax Narrow chest Occipital encephalocele Wide-cupped costochondral junctions Aplasia/Hypoplasia of the lungs Short femur Hypoplastic ilia Small face Cloverleaf skull Increased nuchal translucency Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Small foramen magnum Short ribs Small abnormally formed scapulae Disproportionate short-limb short stature Mitral valve prolapse Conductive hearing impairment Gingival bleeding Mitral regurgitation Tall stature Hoarse voice Osteolysis Dermal atrophy Urticaria Hypermelanotic macule Agenesis of permanent teeth Atrophic scars Skin vesicle Fragile skin Abnormal joint morphology Striae distensae Premature loss of teeth Subarachnoid hemorrhage Fine hair Gingivitis Periodontitis Generalized joint laxity Mitral stenosis Chronic pain Premature loss of primary teeth Poor wound healing Cigarette-paper scars Palmoplantar cutis laxa Premature loss of permanent teeth Gingival recession Intestinal perforation Severe periodontitis Atrophy of alveolar ridges Thin skin Carious teeth Neonatal hypotonia Corneal erosion Myalgia Hip dislocation Pulmonic stenosis Microcornea Hip dysplasia Pyelonephritis High myopia Abnormality of epiphysis morphology Congenital hip dislocation Corneal dystrophy Hallux valgus Keratoconus Megalocornea Sclerocornea Corneal scarring Autoimmunity Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Neoplasm Pain Flexion contracture Dilatation Recurrent infections Arthralgia Arthritis Erythema Scarring Platybasia Stage 5 chronic kidney disease Ureteropelvic junction obstruction Delayed speech and language development Abnormality of the lower limb Abnormality of the upper limb Ridged nail Concave nail Aplasia/Hypoplasia of the patella Aplastic/hypoplastic toenail Iliac horns Thickening of the lateral border of the scapula Microcephaly Abnormal facial shape Cryptorchidism Ptosis Feeding difficulties Epicanthus Abnormality of the elbow Wide nasal bridge Talipes equinovarus Anteverted nares Hypoplasia of the corpus callosum Long philtrum Agenesis of corpus callosum Narrow mouth Gastroesophageal reflux Abnormality of the pinna Wide mouth Short philtrum Broad forehead Abnormality of the cerebral white matter Abnormal toenail morphology Patellar dislocation Round face Thickened skin Thick vermilion border Generalized hirsutism Abnormality of the hand Furrowed tongue Oral synechia Intellectual disability, mild Synophrys Thick eyebrow Highly arched eyebrow Tapered finger Macroglossia Sloping forehead Thick lower lip vermilion Abnormality of the metacarpal bones Exostoses Large hands Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Abnormal lip morphology Joint stiffness Hematuria Nephrotic syndrome Abnormality of the fingernails Cubitus valgus Hypoplastic toenails Glomerulopathy Joint swelling Downturned corners of mouth Bilateral ptosis High-frequency hearing impairment Multicystic kidney dysplasia Microphthalmia Reduced visual acuity Hydronephrosis Coloboma Confusion Gliosis Vesicoureteral reflux Progressive visual loss Renal hypoplasia Abnormality of the genital system Renal dysplasia Nephrolithiasis Horseshoe kidney Macular degeneration Nystagmus Abnormality of the genitourinary system Chronic kidney disease Nephritis Visual field defect Chorioretinal atrophy Severe vision loss Arnold-Chiari type I malformation Abnormality of the vasculature Multiple renal cysts Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma Visual impairment Orbital craniosynostosis Language impairment Hydrops fetalis Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Failure to thrive Low-set ears Midface retrusion Osteopenia Craniosynostosis Delayed eruption of teeth Abnormality of the ribs Abnormal form of the vertebral bodies Bowing of the long bones Wormian bones Crumpled long bones Abnormality of dental enamel Abnormality of the voice High pitched voice Pathologic fracture Hyperthyroidism Central hypotonia Turricephaly Shallow orbits Coronal craniosynostosis Communicating hydrocephalus Vertebral compression fractures Severe hydrops fetalis Multiple suture craniosynostosis Alveolar bone loss around teeth


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