Arthritis, and Nail dysplasia

Diseases related with Arthritis and Nail dysplasia

In the following list you will find some of the most common rare diseases related to Arthritis and Nail dysplasia that can help you solving undiagnosed cases.


Top matches:

Low match PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS


Juvenile psoriatic arthritis is a relatively rare form of juvenile idiopathic arthritis (JIA) representing less than 10% of all JIA cases.

PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS Is also known as psoriasis-related jia|juvenile psoriatic arthritis

Related symptoms:

  • Arthritis
  • Autoimmunity
  • Inflammatory abnormality of the skin
  • Psoriasiform dermatitis
  • Juvenile rheumatoid arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSORIASIS-RELATED JUVENILE IDIOPATHIC ARTHRITIS

Low match PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1


Psoriasis (psoriasis vulgaris; PV) is a chronic inflammatory dermatosis that affects approximately 2% of the population. It is characterized by red, scaly skin patches that are usually found on the scalp, elbows, and knees, and may be associated with severe arthritis. The lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. The usual age of onset of psoriasis is between 15 and 30 years, although it can present at any age (summary by Matthews et al., 1996).Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (OMIM ) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris; however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).Nestle et al. (2009) provided a detailed review of the pathogenesis and genetics of psoriasis. Genetic Heterogeneity of Psoriasis and Psoriasis SusceptibilityPSORS2 (OMIM ) is caused by mutation in the CARD14 gene (OMIM ) on chromosome 17q25, and PSORS14 (OMIM ) is caused by mutation in the IL36RN gene (OMIM ) on chromosome 2q14.Psoriasis susceptibility loci include PSORS1 on 6p21.3; PSORS3 (OMIM ) on 4q; PSORS4 on 1q21; PSORS5 (OMIM ) on 3q21; PSORS6 (OMIM ) on 19p; PSORS7 (OMIM ) on 1p; PSORS8 (OMIM ) on 16q; PSORS9 (OMIM ) on 4q31; PSORS10 (OMIM ) on 18p11; PSORS11 (OMIM ) on 5q31-q33; PSORS12 (OMIM ) on 20q13; PSORS13 (OMIM ), conferred by variation in the TRAF3IP2 gene (OMIM ) on 6q21; and PSORS15 (OMIM ), conferred by variation in the AP1S3 gene (OMIM ) on 2q36.An additional putative psoriasis candidate locus has been reported on 20p (Nair et al., 1997).

Related symptoms:

  • Fever
  • Arthritis
  • Skin rash
  • Scaling skin
  • Psoriasiform dermatitis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 1, SUSCEPTIBILITY TO; PSORS1

Low match GENERALIZED PUSTULAR PSORIASIS


Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

Related symptoms:

  • Muscle weakness
  • Fever
  • Headache
  • Erythema
  • Skin rash


SOURCES: OMIM ORPHANET MENDELIAN

More info about GENERALIZED PUSTULAR PSORIASIS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match NAIL-PATELLA 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

Low match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Top 5 symptoms//phenotypes associated to Arthritis and Nail dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Nail dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis Joint stiffness Joint dislocation Pain Sparse hair Carious teeth Delayed eruption of teeth Generalized hypotonia Macrocephaly Hearing impairment Short neck Short nose Malar flattening Midface retrusion Osteoporosis Kyphoscoliosis Pes planus Platyspondyly Generalized osteoporosis Micrognathia Brachydactyly Osteopenia Skeletal dysplasia Abnormal facial shape Psoriasiform dermatitis Nail dystrophy

Rare Symptoms - Less than 30% cases


Metaphyseal widening Hypotrichosis Furrowed tongue Short metatarsal Scleroderma Muscle weakness Abnormality of the dentition Nail pits Delayed skeletal maturation Short metacarpal Anteverted nares Smooth philtrum Carcinoma Talipes equinovarus Erythema Palmoplantar pustulosis Stroke Depressed nasal bridge Hyperlordosis Fine hair Muscular hypotonia Hypohidrosis Sparse and thin eyebrow Edema Macrotia Hypogonadism Nausea Osteolysis Flat capital femoral epiphysis Neoplasm Sensorineural hearing impairment Keratoconjunctivitis sicca Narrow mouth Alopecia of scalp Narrow chest Thoracolumbar scoliosis Flexion contracture Irregular vertebral endplates Proptosis Growth delay Hypoplastic toenails Joint hyperflexibility Large joint dislocations Severe short stature Genu varum Glaucoma Hypertension Coxa valga Abnormality of the skeletal system Micromelia Generalized joint laxity Cataract Pustule Scaling skin Concave nail Bowing of the long bones Skin rash Joint laxity Hip dislocation Genu valgum Fever Thin nail Skeletal muscle atrophy Dyspnea Cardiomyopathy Prominent forehead Congestive heart failure Failure to thrive Dementia Diarrhea Conductive hearing impairment Hypertrophic cardiomyopathy Microtia Dilated cardiomyopathy Hypermetropia Delayed puberty Infertility Medial deviation of the foot Thin vermilion border Hepatic steatosis Hypodontia Chest pain Limitation of joint mobility Growth hormone deficiency Splayed fingers Vertebral clefting Radioulnar dislocation Waddling gait Disproportionate short-limb short stature Sandal gap Microretrognathia Coxa vara Horseshoe kidney Rhizomelia Broad thumb Depressed nasal ridge Wide intermamillary distance Round face Short femoral neck Abdominal distention Renal cyst Short distal phalanx of finger Flat face Postnatal growth retardation Abnormality of the kidney High forehead Respiratory failure Clinodactyly Obesity Abnormality of the hand Thoracic hypoplasia Broad first metatarsal Long upper lip Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Multiple joint dislocation Advanced ossification of carpal bones Stiff neck Cyanosis Congenital glaucoma Hypoplastic vertebral bodies Flattened epiphysis Peripheral edema Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Short 1st metacarpal Flat acetabular roof Protuberant abdomen Cystic hygroma Convex nasal ridge Aortic valve stenosis Abnormality of the cardiovascular system Arteriosclerosis Chronic diarrhea Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Absence of subcutaneous fat Abnormal intestine morphology Hip pain Aplastic clavicle Narrow nasal ridge Carcinoid tumor Corneal arcus Cachexia Prolonged prothrombin time Decreased serum estradiol Rheumatoid arthritis Thin bony cortex Enlarged joints Malnutrition Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Postural instability Intermittent claudication Angina pectoris Absence of pubertal development Vomiting Abdominal pain Tapering pointed ends of distal finger phalanges Hypothyroidism Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Nausea and vomiting Insulin-resistant diabetes mellitus at puberty Malabsorption Carotid artery stenosis Widely patent fontanelles and sutures Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Lack of skin elasticity Prominent superficial veins Cardiomegaly Increased bone mineral density Relative macrocephaly Hypercholesterolemia Acanthosis nigricans Hyperlipidemia Atherosclerosis Aminoaciduria Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Thoracic kyphosis Aspiration Nasal speech Protein-losing enteropathy Mucopolysacchariduria Insulin resistance Dental crowding Left ventricular hypertrophy Decreased body weight Broad-based gait Thin skin Hypertriglyceridemia Myocardial infarction Dermal atrophy Intracranial hemorrhage Osteolytic defects of the phalanges of the hand Hypoplastic nipples Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Short clavicles Renal cell carcinoma Thin ribs Lipodystrophy Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Multiple joint contractures Heart murmur Abnormality of the thorax Premature ovarian insufficiency Hyperinsulinemia Dilatation Pectus carinatum Immunodeficiency Sparse eyelashes Squamous cell carcinoma Hemiplegia/hemiparesis Absent eyebrow Keratitis Congenital sensorineural hearing impairment Urticaria Reduced tendon reflexes Neoplasm of the skin Conjunctivitis Macule Knee flexion contracture Elbow flexion contracture Skin ulcer Thickened skin Aganglionic megacolon Progressive visual loss Palmoplantar keratoderma Ichthyosis Severe global developmental delay Aplasia/Hypoplasia of the eyebrow Cellulitis Photophobia Keratoconjunctivitis Cleft palate Global developmental delay Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Squamous cell carcinoma of the skin Severe hearing impairment Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Dystrophic toenail Corneal erosion Abnormal eyelash morphology Scarring Hyperkeratosis Frontal bossing Chills Hematuria Proteinuria Renal insufficiency Oligoarthritis Geographic tongue Periostitis Asthenia Neutrophilia Cholangitis Nephrotic syndrome Parakeratosis Osteomyelitis Leukocytosis Epidermal acanthosis Headache Onychomadesis Acute monocytic leukemia Juvenile rheumatoid arthritis Inflammatory abnormality of the skin Nephropathy Vasculitis Hyperhidrosis Aplasia/Hypoplasia of the patella Pes cavus Cerebellar hypoplasia Visual loss Blindness Visual impairment Cryptorchidism Thickening of the lateral border of the scapula Iliac horns Aplastic/hypoplastic toenail Ridged nail Abnormality of the fingernails Abnormality of the upper limb Abnormality of the lower limb Abnormal toenail morphology Abnormality of the elbow Patellar dislocation Exostoses Joint swelling Glomerulopathy Cubitus valgus Low-set ears Atrial septal defect Respiratory distress Paraplegia Deep philtrum Infantile muscular hypotonia Scapular winging Narrow palate Sparse scalp hair Microdontia Dental malocclusion Bulbous nose Spastic paraplegia Short finger Autoimmunity Protruding ear Low-set, posteriorly rotated ears Thin upper lip vermilion Arthralgia Posteriorly rotated ears Recurrent respiratory infections Long philtrum Dysarthria Cone-shaped epiphysis Progressive spastic paraplegia Delayed phalangeal epiphyseal ossification Coxa magna Intrauterine growth retardation Myopia Epicanthus Motor delay Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Abnormally low-pitched voice Sparse lateral eyebrow Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Pseudohypoparathyroidism Leukonychia Thin eyebrow Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Spondylolisthesis Ataxia Long proximal phalanx of finger Intellectual disability, mild Flared metaphysis Spondyloepimetaphyseal dysplasia Upper airway obstruction Delayed epiphyseal ossification Soft skin Tracheomalacia Thoracic scoliosis Dislocated radial head Abnormal joint morphology Metaphyseal irregularity Irregular epiphyses Stridor Epiphyseal dysplasia Short long bone Congenital hip dislocation Abnormality of epiphysis morphology Broad nasal tip Wide nose Talipes Elevated serum creatine phosphokinase Small epiphyses Hypoplasia of the capital femoral epiphysis Long distal phalanx of finger Abnormality of the patella Slender distal phalanx of finger Caudal interpedicular narrowing Slender proximal phalanx of finger Abnormal calcification of the carpal bones Streaky metaphyseal sclerosis Delayed patellar ossification Narrow femoral neck Slender metacarpals Posterior scalloping of vertebral bodies Narrow vertebral interpedicular distance Carpal bone hypoplasia Laryngotracheomalacia Abnormal bone ossification Laryngeal stenosis Abnormal sacrum morphology Inspiratory stridor Spinal dysraphism Thoracolumbar kyphosis Enlarged thorax Broad distal phalanx of finger Intestinal polyp



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Amenorrhea, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more