Arthritis, and Tall stature

Diseases related with Arthritis and Tall stature

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


Top matches:

Low 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

Low 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

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

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Other less relevant matches:

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 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 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

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

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Tall stature

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

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

Uncommon Symptoms - Between 30% and 50% cases


Mitral regurgitation Soft skin Dilatation Hernia Neoplasm Pes planus Cleft palate Flexion contracture High palate Arachnodactyly Bruising susceptibility Growth delay Frontal bossing Skeletal dysplasia Abnormal joint morphology Short stature Abnormality of the sternum Osteoporosis Joint dislocation Patent ductus arteriosus Mitral valve prolapse Disproportionate tall stature Arterial tortuosity Migraine Proptosis Intellectual disability Spondylolisthesis Ptosis Hypertelorism Inguinal hernia Joint laxity Skin rash Arthropathy Abnormality of the skeletal system Kyphoscoliosis Blue sclerae

Rare Symptoms - Less than 30% cases


Generalized hypotonia Dural ectasia Hoarse voice Atrophic scars Micrognathia Striae distensae Motor delay Edema Fatigue Macrocephaly Downslanted palpebral fissures Brachydactyly Generalized joint laxity Subarachnoid hemorrhage Hydrocephalus Vasculitis Back pain Anemia Scarring Camptodactyly Joint hyperflexibility Aortic regurgitation Bicuspid aortic valve Joint hypermobility Thoracic aortic aneurysm Aortic aneurysm Atrial septal defect Dilatation of the cerebral artery Aortic dissection Malar flattening Urticaria Abnormality of the dentition Talipes equinovarus Umbilical hernia Midface retrusion Seborrheic dermatitis Sleep apnea Joint contracture of the hand Thickened skin Ectopia lentis Dysuria Erythema Coarse facial features Hyperhidrosis Kyphosis Acne Severe short stature Pectus excavatum Aortic root aneurysm Spinal canal stenosis Acanthosis nigricans Spondyloepiphyseal dysplasia Hypertension Ascending aortic dissection Patent foramen ovale Exotropia Bifid uvula Long face Pectus carinatum Retrognathia Epidermal acanthosis Broad forehead Global developmental delay Joint swelling Growth hormone excess Hearing impairment Dolichocephaly Widely spaced teeth Thin vermilion border High anterior hairline Narrow nose Abnormality of the fingernails Generalized hirsutism Scaphocephaly Thick lower lip vermilion Finger clinodactyly Rhinitis Asthma Hallux valgus Full cheeks Macroglossia Myopathic facies Arnold-Chiari malformation Postaxial hand polydactyly Microretrognathia Eczema Cerebral palsy Posteriorly rotated ears Growth abnormality Myopia Galactorrhea Hypersomnia Paraganglioma Long penis Dysmenorrhea Pheochromocytoma Anterior hypopituitarism Macrodactyly Broad jaw Abnormality of reproductive system physiology Cortical diaphyseal thickening of the upper limbs Deep palmar crease Neoplasm of the endocrine system Facial asymmetry Hypospadias Abnormality of the endocrine system Abnormal toenail morphology Broad foot Clinodactyly Clinodactyly of the 5th finger Deep plantar creases Palpebral edema Generalized hyperpigmentation Craniosynostosis Impotence Large hands Pituitary prolactin cell adenoma Hyperkeratosis Sagittal craniosynostosis Disproportionate short stature Communicating hydrocephalus Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Hip contracture Neuroblastoma Myeloid leukemia Central apnea Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Chronic otitis media Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Upper airway obstruction Abnormality of femur morphology Disproportionate short-limb short stature Hypopnea 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 Cervical cord compression Obstructive lung disease Cor pulmonale Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Tinnitus Short long bone Long toe Biconvex vertebral bodies Gastroesophageal reflux Wide nose Weight loss Obesity Ventriculomegaly Hyperreflexia Depressed nasal bridge Delayed speech and language development Bicuspid pulmonary valve Conductive hearing impairment Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Long thorax Unilateral ptosis Ascending tubular aorta aneurysm Dermal translucency Rigidity Abnormality of the nervous system Infantile muscular hypotonia Tetraparesis Paraparesis Clonus Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Lumbar hyperlordosis Cleft lip Otitis media Lymphoma Sleep disturbance Oral cleft Confusion Micromelia Leukemia Hyperlordosis Apnea Tapered finger Protrusio acetabuli Paresthesia Splenomegaly Lymphadenopathy Nausea and vomiting Papule Myalgia EEG abnormality Hepatosplenomegaly Blindness Meningitis Fever Hepatomegaly Visual impairment Abnormal facial shape Sensorineural hearing impairment Subperiosteal bone formation Premature birth Purpura Eczematoid dermatitis Delayed closure of the anterior fontanelle Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Abnormal thrombocyte morphology Increased intracranial pressure Juvenile rheumatoid arthritis Uveitis Amyloidosis Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Reduced bone mineral density Periostosis Hip pain Autoimmunity Avascular necrosis of the capital femoral epiphysis Arthralgia of the hip Abnormality of bone mineral density Abnormal bone ossification Shallow acetabular fossae Flat capital femoral epiphysis Broad femoral neck Vertebral fusion Abnormality of the epiphysis of the femoral head Coxa vara Abnormality of epiphysis morphology Hip dysplasia Falls Parakeratosis Psoriasiform dermatitis Inflammatory abnormality of the skin Irregular capital femoral epiphysis Abnormal ossification involving the femoral head and neck Wide cranial sutures Clubbing Long clavicles Clubbing of fingers Osteolytic defects of the phalanges of the hand Flushing Heart block Thickened calvaria Redundant skin Wide proximal femoral metaphysis Palmoplantar hyperkeratosis Wormian bones Large fontanelles Limitation of joint mobility Osteopenia Delayed skeletal maturation Abnormal heart morphology Recurrent infections Carious teeth Synophrys Neonatal hypotonia Atrioventricular block Syncope Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Abnormal cardiac septum morphology Brachycephaly Decreased muscle mass Hyporeflexia Ventricular septal defect Muscular hypotonia Knee osteoarthritis Uterine prolapse Intervertebral disc degeneration Abdominal aortic aneurysm Cerebral hemorrhage Reduced subcutaneous adipose tissue Osteochondritis Dissecans Increased arm span Hypertrophic cardiomyopathy Anxiety Macrotia Mandibular prognathia Diabetes mellitus Depressivity Cervical spine instability Celiac disease Bilateral coxa valga Arterial dissection Graves disease Cleft soft palate Broad face Hiatus hernia Long palpebral fissure Hip osteoarthritis Low back pain Microdontia Agenesis of permanent teeth Gingivitis Gingival bleeding Premature loss of teeth Fragile skin Skin vesicle Long nose Hypermelanotic macule Mitral stenosis Dermal atrophy Hyperextensible skin Cutis laxa Osteolysis Gingival overgrowth Thin skin Fine hair Periodontitis Chronic pain Slender finger Alveolar bone loss around teeth Left ventricular hypertrophy Atrial fibrillation Ventricular hypertrophy Dental malocclusion Pulmonic stenosis Headache Atrophy of alveolar ridges Premature loss of primary teeth Severe periodontitis Intestinal perforation Gingival recession Premature loss of permanent teeth Palmoplantar cutis laxa Cigarette-paper scars Poor wound healing Lumbar kyphosis in infancy



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