Edema, and Joint hyperflexibility

Diseases related with Edema and Joint hyperflexibility

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

Top matches:

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

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

Other less relevant matches:

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

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

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

Symptoms // Phenotype % cases
Bruising susceptibility Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hyperextensible skin Uncommon - Between 30% and 50% cases
Blue sclerae Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myopia Hearing impairment Gingival overgrowth Cutis laxa Soft skin Micrognathia Hypertension Renal insufficiency Skeletal dysplasia Joint laxity Joint dislocation Microdontia Hernia Severe short stature Hydrocephalus Growth delay Muscular hypotonia Redundant skin Glaucoma High palate Osteoporosis Joint hypermobility Seizures Everted lower lip vermilion Umbilical hernia Palpebral edema Inguinal hernia Scarring

Rare Symptoms - Less than 30% cases

Mitral regurgitation Increased susceptibility to fractures Abnormality of the metaphysis Downslanted palpebral fissures Recurrent fractures Hypermelanotic macule Proptosis Osteopenia Hip dysplasia Kyphosis Visual impairment Mitral valve prolapse Frontal bossing Thin skin Sensorineural hearing impairment Striae distensae Arachnodactyly Intracranial hemorrhage Coarse facial features Gingival bleeding Mitral stenosis Visual loss Micromelia Macrocephaly Pes planus Depressed nasal bridge Abnormal joint morphology Abnormality of the dentition Severe vision loss Chorioretinal atrophy Fragile skin Macular degeneration Hip dislocation Excessive wrinkled skin Retinal detachment Abnormality of the kidney Reduced visual acuity Intellectual disability Intrauterine growth retardation Vasculitis Blepharophimosis Bulbous nose Thick vermilion border Hypertelorism Long nose Cataract Proteinuria Joint stiffness Brachydactyly Nephropathy Osteoarthritis Dilatation Limb undergrowth Palmoplantar cutis laxa Alveolar bone loss around teeth Atrophy of alveolar ridges Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Cigarette-paper scars Cardiomyopathy Poor wound healing Premature loss of primary teeth Chronic pain Prolonged bleeding time Generalized joint laxity Periodontitis Gingivitis Delayed cranial suture closure Blindness Osteomalacia Pruritus Abnormality of the skin Hirsutism Gastrointestinal hemorrhage Sudden cardiac death Postural instability Abnormality of skin pigmentation Papule Congestive heart failure Small for gestational age Vomiting Stroke Skin rash Retinopathy Hypothyroidism Abnormality of cardiovascular system morphology Subarachnoid hemorrhage Premature loss of teeth Abnormality of the cardiovascular system Gastroesophageal reflux Dermal atrophy Osteolysis Recurrent mandibular subluxations Hoarse voice Tall stature Retrognathia Fine hair Frontal open bite Carious teeth Autoimmunity Hyperkeratosis Erythema Arthritis Arthralgia Recurrent infections Urticaria Abnormality of subcutaneous fat tissue Hiatus hernia Premature rupture of membranes Short palm Esophagitis Echolalia Generalized edema Delayed closure of the anterior fontanelle Avascular necrosis of the capital femoral epiphysis Femoral hernia Soft, doughy skin Spontaneous neonatal pneumothorax Blepharochalasis Skin vesicle Atrophic scars Enlarged naris Agenesis of permanent teeth Gingival hyperkeratosis Wide mouth Cerebral calcification Myocardial infarction Hypertrichosis Short toe Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Coxa valga Arterial calcification Coxa vara Angioid streaks of the fundus Mutism Intermittent claudication Flexion contracture Rickets Retinal hemorrhage Subcutaneous calcification Hyperkeratotic papule Choroidal neovascularization Medial calcification of medium-sized arteries Motor delay Large fontanelles Abnormal facial shape Short phalanx of finger Medial calcification of small arteries Abnormal atrioventricular valve morphology Premature occlusive vascular stenosis Localized skin lesion Wide anterior fontanel Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Abnormal endocardium morphology Epiphora Subcutaneous nodule Cutis marmorata Abnormality of the mouth Severe intrauterine growth retardation Telangiectasia of the skin Multiple lipomas Abnormal retinal morphology Coronary artery atherosclerosis Hemiplegia/hemiparesis Drusen Tricuspid regurgitation Sepsis Abnormality of the thorax Hypodontia Ischemic stroke Atherosclerosis Nephrocalcinosis Thickened nuchal skin fold Aphasia Ectopic calcification Redundant neck skin Pulmonary insufficiency Open bite Arteriosclerosis Arterial stenosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Epicanthus Abnormality of the cerebral vasculature Restrictive cardiomyopathy Lack of skin elasticity Premature birth Angina pectoris Peripheral arterial stenosis Dysphasia Wide nasal bridge Acne Gait disturbance Pain Abnormality of dental enamel Shallow orbits Turricephaly Central hypotonia Hyperthyroidism Pathologic fracture High pitched voice Abnormality of the voice Wormian bones Communicating hydrocephalus Hydrops fetalis Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the ribs Delayed eruption of teeth Craniosynostosis Midface retrusion Coronal craniosynostosis Vertebral compression fractures Failure to thrive Stage 5 chronic kidney disease Nephrolithiasis Renal dysplasia Abnormality of the genital system Renal hypoplasia Progressive visual loss Vesicoureteral reflux Gliosis Confusion Severe hydrops fetalis Coloboma Hydronephrosis Microphthalmia Strabismus Nystagmus Orbital craniosynostosis Crumpled long bones Multiple suture craniosynostosis Low-set ears Generalized hypotonia Multicystic kidney dysplasia Macroglossia Abnormality of the tongue Craniofacial hyperostosis Large hands Abnormality of the metacarpal bones Thickened skin Thick lower lip vermilion Sloping forehead Tapered finger Abnormal lip morphology Highly arched eyebrow Thick eyebrow Synophrys Intellectual disability, mild Oral synechia Furrowed tongue Abnormality of the hand Generalized hirsutism Thick nasal alae Hematuria Global developmental delay Abnormality of the lower limb Thickening of the lateral border of the scapula Iliac horns Aplastic/hypoplastic toenail Aplasia/Hypoplasia of the patella Concave nail Ridged nail Abnormality of the upper limb Abnormal toenail morphology Nephrotic syndrome Abnormality of the elbow Patellar dislocation Exostoses Joint swelling Glomerulopathy Hypoplastic toenails Cubitus valgus Abnormality of the fingernails Horseshoe kidney Abnormality of the genitourinary system Neoplasm Severe short-limb dwarfism Pectus excavatum Cleft palate Wide-cupped costochondral junctions Small abnormally formed scapulae Small foramen magnum Lethal short-limbed short stature Short sacroiliac notch Increased nuchal translucency Neonatal hypotonia Cloverleaf skull Small face Hypoplastic ilia Short femur Aplasia/Hypoplasia of the lungs Occipital encephalocele Short thorax Flared metaphysis Conductive hearing impairment Myalgia Metaphyseal irregularity Sclerocornea Abnormality of hair pigmentation Decreased corneal thickness Keratoglobus Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Megalocornea Camptodactyly Keratoconus Hallux valgus Corneal dystrophy Congenital hip dislocation Abnormality of epiphysis morphology High myopia Microcornea Pulmonic stenosis Abnormality of neuronal migration Disproportionate short-limb short stature Chronic kidney disease High-frequency hearing impairment Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Lens luxation Platybasia Pyelonephritis Ureteropelvic junction obstruction Retinal coloboma Renal malrotation Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Arnold-Chiari type I malformation Visual field defect Nephritis Scleral staphyloma Morning glory anomaly Holoprosencephaly Platyspondyly Acanthosis nigricans Short ribs Encephalocele Decreased fetal movement Limitation of joint mobility Flat face Narrow chest Polyhydramnios Orbital cyst Patent ductus arteriosus Atrial septal defect Respiratory insufficiency Ventriculomegaly Cognitive impairment Ureterovesical junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Abnormality of primary molar morphology


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