Arthritis, and Large fontanelles

Diseases related with Arthritis and Large fontanelles

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


Top matches:

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Low match CRANIO-OSTEOARTHROPATHY


Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy (see this term) characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis.

CRANIO-OSTEOARTHROPATHY Is also known as sdam|currarino idiopathic osteoarthropathy|currarino disease|reginato-schiapachasse syndrome

Related symptoms:

  • Ventricular septal defect
  • Headache
  • Patent ductus arteriosus
  • Constipation
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIO-OSTEOARTHROPATHY

Low match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

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Other less relevant matches:

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 CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Low match X-LINKED HYPOPHOSPHATEMIA


X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

X-LINKED HYPOPHOSPHATEMIA Is also known as xlh|x-linked hypophosphatemic rickets

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormality of the dentition
  • Craniosynostosis
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED HYPOPHOSPHATEMIA

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR


Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Pain


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Top 5 symptoms//phenotypes associated to Arthritis and Large fontanelles

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Large fontanelles. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Proptosis Delayed eruption of teeth Abnormality of the dentition Micrognathia Osteoporosis Osteolytic defects of the phalanges of the hand Hip dislocation Pes planus Growth delay Frontal bossing Joint dislocation Hypertension Craniosynostosis Bone pain Rickets Arthropathy Osteomalacia Sensorineural hearing impairment Osteopenia Kyphosis Flexion contracture

Rare Symptoms - Less than 30% cases


Intellectual disability Failure to thrive Abnormality of the skeletal system Gait disturbance Brachydactyly Carious teeth Neoplasm Decreased body weight Hypertelorism Pneumonia Osteolysis Generalized osteoporosis Recurrent fractures Metaphyseal widening Abnormality of the thorax Bowing of the legs Hypophosphatemia Talipes equinovarus Fever Prominent forehead Cataract Increased intracranial pressure Small face Short clavicles Abnormal facial shape Delayed closure of the anterior fontanelle Brachycephaly Coxa valga Abnormal cortical bone morphology Growth hormone deficiency Hypoplastic facial bones Macrocephaly Joint hyperflexibility Narrow chest Conductive hearing impairment Fatigue Skeletal dysplasia Kyphoscoliosis Macrotia Abnormality of the metaphysis Genu valgum Hip pain Generalized hypotonia Headache Constipation Diabetes mellitus Joint stiffness Coarse facial features Abnormal heart morphology Omphalocele Patent ductus arteriosus Meningitis Skin rash Pectus excavatum Thickened skin Wormian bones Limitation of joint mobility Cleft palate Joint swelling Global developmental delay Congenital hip dislocation Soft skin Hepatomegaly Visual impairment Anemia Reduced bone mineral density Leukocytosis Urticaria Delayed gross motor development Elevated erythrocyte sedimentation rate Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Purpura Lymphadenopathy Nausea and vomiting Myalgia Hallux valgus Atrophic scars Migraine Premature birth Papule Overgrowth Hyperextensibility of the finger joints Fragile skin EEG abnormality Vasculitis Hepatosplenomegaly Splenomegaly Hyperextensible skin Blindness Edema Elevated alkaline phosphatase Reticulated skin pigmentation Absence of pubertal development Ovoid vertebral bodies Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Poor wound healing Lack of skin elasticity Angina pectoris Prominent superficial veins Hyperphosphatemia Prolonged prothrombin time Down-sloping shoulders Excessive wrinkled skin Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Renal cell carcinoma Decreased serum estradiol Carcinoid tumor Carotid artery stenosis Parietal bossing Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Abnormal joint morphology Prominent scalp veins Bird-like facies Mitral valve calcification Widely patent fontanelles and sutures Arteriosclerosis Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Aplastic clavicle Narrow nasal ridge Progressive sensorineural hearing impairment Abnormal thrombocyte morphology Blue sclerae Metacarpal osteolysis Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Feeding difficulties Respiratory distress Vomiting Respiratory failure Waddling gait Severe generalized osteoporosis Interphalangeal joint erosions Hypercalcemia Premature loss of teeth Papilledema Chondrocalcinosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Chronic pain Osteolysis involving tarsal bones Widened metacarpal shaft Premature loss of primary teeth Spinal canal stenosis Generalized muscle weakness Muscle cramps Hypercalciuria Dolichocephaly Tooth abscess Enthesitis Rachitic rosary Hyperparathyroidism Abnormality of the lower limb Ankylosis of feet small joints Hypophosphatemic rickets Genu varum Abnormality of dental enamel Renal phosphate wasting Seizures Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Broad metatarsal Pulmonary insufficiency Amyloidosis Abnormal granulocyte morphology Hypoplasia of the maxilla Small hand Hyperlordosis Hirsutism Bulbous nose Corneal opacity Hypothyroidism Pes cavus Retrobulbar optic neuritis Joint laxity Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Joint hypermobility Bruising susceptibility Coxa vara Juvenile rheumatoid arthritis Uveitis Interphalangeal joint contracture of finger Hypertrichosis Muscle weakness Gastroesophageal reflux Camptodactyly of toe Generalized hypertrichosis Wrist flexion contracture Depressed nasal bridge Vertebral compression fractures Antinuclear antibody positivity Keratoconjunctivitis sicca Hernia Ankylosis Ankle contracture Split hand Hip contracture Narrow nasal bridge Abnormality of the thyroid gland Umbilical hernia Abnormality of the ear Hypermelanotic macule Knee flexion contracture Gingival overgrowth Subcutaneous nodule Hypoplastic nipples Broad-based gait Thin ribs Dermoid cyst Hydromyelia Presacral teratoma Anterior sacral meningocele Hemisacrum Cloacal exstrophy Rectal fistula Sacral meningocele Sacral lipoma Sirenomelia Exstrophy Motor delay Rectal abscess Absence of the sacrum Clubbing of toes Cyclopia Mottled pigmentation Lower limb undergrowth Spinal deformities Bladder exstrophy Teratoma Strabismus Respiratory insufficiency Urinary retention Nevus Recurrent otitis media Renal hypoplasia Pulmonary arterial hypertension Abnormality of the ribs Oligohydramnios Mitral valve prolapse Tetralogy of Fallot Intestinal malrotation Vesicoureteral reflux Full cheeks Atrial septal defect Short distal phalanx of finger Facial asymmetry Pulmonic stenosis Abnormal cardiac septum morphology Respiratory tract infection Hydronephrosis Retrognathia High forehead Recurrent respiratory infections Deviation of finger Abnormality of the knee Wide anterior fontanel Disproportionate tall stature Eczematoid dermatitis Wide cranial sutures Long clavicles Seborrheic dermatitis Clubbing of fingers Flushing Heart block Growth hormone excess Thickened calvaria Acne Subperiosteal bone formation Clubbing Patent foramen ovale Redundant skin Palmoplantar hyperkeratosis Erythema Hyperhidrosis Delayed skeletal maturation High palate Ptosis Periostosis Ventricular septal defect Neurogenic bladder Tracheoesophageal fistula Abnormality of tibia morphology Chronic constipation Maternal diabetes Meningocele Abnormality of the skull Lipoma Syringomyelia Transposition of the great arteries Hyperostosis Back pain Talipes Abnormality of the genitourinary system Holoprosencephaly Spina bifida occulta Type I diabetes mellitus Spina bifida Situs inversus totalis Eczema Urinary incontinence Anal atresia Bowing of the long bones Hoarse voice Scleroderma Abnormality of the cardiovascular system Sparse and thin eyebrow Insulin resistance Hypohidrosis Dental crowding Left ventricular hypertrophy Thin skin Hypertriglyceridemia Myocardial infarction Cardiomegaly Cyanosis Aspiration Convex nasal ridge Nail dysplasia Chest pain Hypodontia Hepatic steatosis Thin vermilion border Infertility Delayed puberty Hypotrichosis Aortic valve stenosis Increased bone mineral density Dilated cardiomyopathy Lipodystrophy Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Multiple joint contractures Heart murmur Premature ovarian insufficiency Hyperinsulinemia Intracranial hemorrhage Hypergonadotropic hypogonadism Nasal speech Dermal atrophy Relative macrocephaly Hypercholesterolemia Acanthosis nigricans Hyperlipidemia Atherosclerosis Aminoaciduria Hypogonadotrophic hypogonadism Hypermetropia Microtia Coarse hair Atrioventricular canal defect Tricuspid valve prolapse Sclerosis of skull base Complete atrioventricular canal defect Craniofacial hyperostosis Hypoplastic pelvis Hypoplastic scapulae Misalignment of teeth Cone-shaped epiphyses of the phalanges of the hand Short humerus Tibial bowing Prune belly Limited elbow extension Long fingers Short thorax Delayed cranial suture closure Thoracic hypoplasia Ectopic kidney Flared metaphysis Melanocytic nevus Prominent supraorbital ridges Ureteral stenosis Long neck Stroke Malar flattening Sparse hair Hypertrophic cardiomyopathy Carcinoma Dyspnea Narrow mouth Hypogonadism Dementia Alopecia Midface retrusion Short nose Urethral atresia Congestive heart failure Cardiomyopathy Skeletal muscle atrophy Anterior concavity of thoracic vertebrae Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Megacystis Subcutaneous hemorrhage



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