Arthritis, and Overgrowth

Diseases related with Arthritis and Overgrowth

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


Top matches:

Medium match SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS


Seborrhea-like dermatitis with psoriasiform elements is a rare, genetic, epidermal disorder characterized by a chronic, diffuse, fine, scaly erythematous rash on the face (predominantly the chin, nasolabial folds, eyebrows), around the earlobes and over the scalp, associated with hyperkeratosis over elbows, knees, palms, soles and metacarpophalangeal joints, in the absence of associated rheumatological or neurological disorders. Cold weather, emotional stress and strenuous physical activity may exacerbate symptoms.

Related symptoms:

  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Skin rash
  • Overgrowth


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS

Medium match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

Medium 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

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Other less relevant matches:

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

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 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 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 ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Top 5 symptoms//phenotypes associated to Arthritis and Overgrowth

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Mitral regurgitation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Dilatation Arachnodactyly Growth delay Pes planus Neoplasm Hernia Tall stature High palate Kyphoscoliosis Aortic dissection Intellectual disability Disproportionate tall stature Spondylolisthesis Skin rash Soft skin Back pain Subarachnoid hemorrhage Striae distensae Cleft palate Osteoporosis Abnormality of the sternum Long face Joint hypermobility Generalized hypotonia Bruising susceptibility Joint laxity Aortic regurgitation Kyphosis Migraine Pectus excavatum Mitral valve prolapse Arthropathy Skeletal dysplasia Edema Abnormality of the skeletal system Inguinal hernia Abnormal joint morphology Short stature Sleep apnea Frontal bossing

Rare Symptoms - Less than 30% cases


Blue sclerae Dental malocclusion Dolichocephaly Pectus carinatum Spinal canal stenosis Obstructive sleep apnea Midface retrusion Downslanted palpebral fissures Motor delay Retrognathia Aortic root aneurysm Exotropia Acne Joint hyperflexibility Scarring Hyperlordosis Apnea Abnormality of the dentition Joint swelling Umbilical hernia Growth hormone excess Gastroesophageal reflux Abnormal lung morphology Malar flattening Hypertension Patent ductus arteriosus Hoarse voice Acanthosis nigricans Thickened skin Arterial tortuosity Erythema Coarse facial features Hyperhidrosis Reduced subcutaneous adipose tissue Decreased muscle mass Ectopia lentis Patent foramen ovale Ptosis Hypertelorism Fatigue Low back pain Spondyloepiphyseal dysplasia Hearing impairment Joint dislocation Vasculitis Aortic aneurysm Hypopnea Proptosis Urticaria Macrocephaly Dilatation of the cerebral artery Brachydactyly Micrognathia Anemia Slender finger Camptodactyly Redundant skin Epidermal acanthosis Protrusio acetabuli Generalized joint laxity Thoracic aortic aneurysm Dysuria Severe short stature Seborrheic dermatitis Dural ectasia Decreased body weight Limitation of joint mobility Large for gestational age Emphysema Spontaneous abortion Heart block Rocker bottom foot Flushing Osteolytic defects of the phalanges of the hand Large fontanelles Heart murmur Epiphora Hammertoe Elbow flexion contracture Wormian bones Congenital contracture Dental crowding Palmoplantar hyperkeratosis Amblyopia Clubbing Narrow palate Thickened calvaria Narrow face Open bite Cystic medial necrosis Osteopenia Pulmonary artery dilatation Microspherophakia Hypertropia Spontaneous pneumothorax Overjet Flat cornea Premature osteoarthritis Tricuspid valve prolapse Endocarditis Anisometropia Overbite Ascending tubular aorta aneurysm Increased axial length of the globe Incisional hernia Hypoplasia of the musculature Mitral annular calcification Restrictive ventilatory defect Pneumothorax Homocystinuria Medial rotation of the medial malleolus Inferior oblique muscle overaction Pulmonary edema Genu recurvatum Thoracic kyphosis Meningocele Arachnoid cyst Abnormal heart morphology Hypoplasia of the iris Delayed skeletal maturation Megalocornea Long clavicles Clubbing of fingers Hyperkeratosis Wide cranial sutures Paresthesia Widely spaced teeth Abnormality of the fingernails Generalized hirsutism Thick lower lip vermilion Full cheeks Macroglossia Tapered finger Wide nose Synophrys Growth abnormality Broad forehead Hypertrophic cardiomyopathy Anxiety Macrotia Mandibular prognathia Diabetes mellitus Depressivity Knee osteoarthritis Uterine prolapse Cerebral palsy Large hands Abdominal aortic aneurysm Paraganglioma Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Long penis Impotence Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Abnormality of the endocrine system Abnormal toenail morphology Broad foot Palpebral edema Generalized hyperpigmentation Intervertebral disc degeneration Hip osteoarthritis Hip pain Osteolysis Skin vesicle Long nose Atrophic scars Agenesis of permanent teeth Hypermelanotic macule Dermal atrophy Hyperextensible skin Cutis laxa Gingival overgrowth Cardiomegaly Thin skin Fine hair Microdontia Carious teeth Autoimmunity Recurrent infections Subperiosteal bone formation Periostosis Eczematoid dermatitis Fragile skin Gingival bleeding Osteochondritis Dissecans Severe periodontitis Bicuspid aortic valve Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Pulmonic stenosis Headache Atrial septal defect Alveolar bone loss around teeth Atrophy of alveolar ridges Intestinal perforation Gingivitis Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Premature loss of primary teeth Chronic pain Mitral stenosis Periodontitis Premature loss of teeth Myelopathy Abnormality of the cardiovascular system Ventricular septal defect Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Abnormal cardiac septum morphology Neonatal hypotonia Brachycephaly Hyporeflexia Talipes equinovarus Muscular hypotonia Syncope Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Bifid uvula Joint contracture of the hand Uveitis Bilateral coxa valga Obesity Hydrocephalus Ventriculomegaly Hyperreflexia Depressed nasal bridge Delayed speech and language development Increased arm span Cervical spine instability Arterial dissection Atrioventricular block Ascending aortic dissection Graves disease Cleft soft palate Broad face Hiatus hernia Long palpebral fissure Celiac disease Cerebral hemorrhage Juvenile rheumatoid arthritis Amyloidosis Rigidity Broad femoral neck Abnormal ossification involving the femoral head and neck Abnormality of the epiphysis of the femoral head Irregular capital femoral epiphysis Arthralgia of the hip Abnormality of bone mineral density Abnormal bone ossification Shallow acetabular fossae Flat capital femoral epiphysis Avascular necrosis of the capital femoral epiphysis Global developmental delay Vertebral fusion Coxa vara Abnormality of epiphysis morphology Hip dysplasia Falls Parakeratosis Psoriasiform dermatitis Inflammatory abnormality of the skin Wide proximal femoral metaphysis Sensorineural hearing impairment Progressive sensorineural hearing impairment Nausea and vomiting Elevated erythrocyte sedimentation rate Leukocytosis Reduced bone mineral density Increased intracranial pressure Purpura Meningitis Premature birth Lymphadenopathy Papule Abnormal facial shape Myalgia EEG abnormality Hepatosplenomegaly Splenomegaly Blindness Fever Hepatomegaly Visual impairment Weight loss Conductive hearing impairment Esotropia Cervical cord compression Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Obstructive lung disease Strabismus Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Hypoxemia Multiple epiphyseal dysplasia Lumbar kyphosis in infancy Muscle weakness Abnormality of femur morphology Pes cavus Chest pain Polyneuropathy Retinal detachment High, narrow palate Peripheral axonal neuropathy Stroke Deeply set eye Glaucoma Arrhythmia Cataract Visual loss Clinodactyly Abnormality of cardiovascular system morphology Congestive heart failure Myopathy Respiratory insufficiency Myopia Peripheral neuropathy Cor pulmonale Central apnea Abnormality of the nervous system Tetraparesis Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Lumbar hyperlordosis Short long bone Otitis media Lymphoma Sleep disturbance Oral cleft Confusion Micromelia Leukemia Cleft lip Infantile muscular hypotonia Disproportionate short-limb short stature Upper airway obstruction Myeloid leukemia Communicating hydrocephalus Osteopetrosis Megalencephaly Spinal cord compression Abnormality of the elbow Hip contracture Neuroblastoma Disproportionate short stature Tibial bowing Tinnitus Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Chronic otitis media Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Cortical diaphyseal thickening of the upper limbs



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