Arthritis, and Frontal bossing

Diseases related with Arthritis and Frontal bossing

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


Top matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY


Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

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Other less relevant matches:

Medium match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Medium match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium match HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA


Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia.

HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA Is also known as hypophosphatemia, x-linked|hpdr|hhrh|hyp|xlh|hypophosphatemic vitamin d-resistant rickets|vitamin d-resistant rickets, x-linked

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

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

Medium 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

Medium 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

Medium 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 Frontal bossing

Symptoms // Phenotype % cases
Arthralgia Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypodontia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Brachydactyly Skeletal dysplasia Abnormal joint morphology Abnormality of epiphysis morphology Kyphosis Growth delay Joint dislocation Epiphyseal dysplasia Macrocephaly Muscle weakness Genu valgum Depressed nasal bridge Gait disturbance

Rare Symptoms - Less than 30% cases


Small epiphyses Arthropathy Osteochondritis Dissecans Irregular epiphyses Midface retrusion Hypoplasia of the capital femoral epiphysis Fever Migraine Generalized osteoporosis Spinal canal stenosis Wide nose Depressivity Abnormality of the dentition Hypertension Sensorineural hearing impairment Neoplasm Hearing impairment Ankylosis Growth abnormality Leukocytosis Hepatosplenomegaly Intellectual disability Global developmental delay Fatigue Proptosis Joint swelling Genu varum Mild short stature Metaphyseal irregularity Waddling gait Hip dislocation Hyperhidrosis Dry skin Ectodermal dysplasia Pes planus Coarse facial features Kyphoscoliosis Hypertelorism Low-set ears Short neck Malar flattening Osteoporosis Thickened skin Scoliosis Diabetes mellitus Delayed closure of the anterior fontanelle Multiple epiphyseal dysplasia Micromelia Pain Gingival overgrowth Platyspondyly Muscular hypotonia Cleft palate Talipes equinovarus Narrow nasal bridge Anteverted nares Atrial septal defect Intellectual disability, mild Short nose Elevated serum creatine phosphokinase Joint laxity Interphalangeal joint contracture of finger Joint hyperflexibility Metaphyseal widening Sclerotic cranial sutures Hypoplasia of the maxilla Abnormality of the thorax Hypermelanotic macule Talipes Abnormality of the ear Broad nasal tip Nail dysplasia Congenital hip dislocation Short long bone Stridor Generalized hypotonia Thin metatarsal cortices Distal tapering of metatarsals Severe generalized osteoporosis Flared metaphysis Ankle contracture Wrist flexion contracture Generalized hypertrichosis Knee flexion contracture Camptodactyly of toe Broad metatarsal Protrusio acetabuli Decreased body weight Contractures of the large joints Subcutaneous nodule C1-C2 subluxation Finger swelling Metacarpal osteolysis Vertebral compression fractures Metatarsal osteolysis Split hand Carpal osteolysis Thin metacarpal cortices Osteolysis Osteolysis involving tarsal bones Abnormality of the thyroid gland Interphalangeal joint erosions Widened metacarpal shaft Ankylosis of feet small joints Hip contracture Hypertrichosis Peripheral opacification of the cornea Antinuclear antibody positivity Laryngeal stenosis Dislocated radial head Abnormality of the fingernails Impotence Large hands Acne Sleep apnea Cerebral palsy Widely spaced teeth Acanthosis nigricans Generalized hirsutism Palpebral edema Hoarse voice Tall stature Mitral regurgitation Thick lower lip vermilion Full cheeks Macroglossia Tapered finger Generalized hyperpigmentation Growth hormone excess Paresthesia Hypersomnia Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Paraganglioma Broad foot Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Long face Synophrys Thoracic scoliosis Broad distal phalanx of finger Small hand Abnormal sacrum morphology Inspiratory stridor Spinal dysraphism Flat capital femoral epiphysis Thoracolumbar kyphosis Enlarged thorax Carpal bone hypoplasia Laryngotracheomalacia Spondyloepimetaphyseal dysplasia Upper airway obstruction Generalized joint laxity Delayed epiphyseal ossification Thoracolumbar scoliosis Soft skin Irregular vertebral endplates Tracheomalacia Abnormal bone ossification Narrow vertebral interpedicular distance Broad forehead Slender distal phalanx of finger Hypertrophic cardiomyopathy Anxiety Macrotia Mandibular prognathia Delayed phalangeal epiphyseal ossification Long proximal phalanx of finger Long distal phalanx of finger Caudal interpedicular narrowing Large joint dislocations 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 Abnormality of the patella Delayed eruption of teeth Increased intracranial pressure Hirsutism Quadriceps muscle atrophy Recurrent infections Immunodeficiency Diarrhea Delayed speech and language development Failure to thrive Abnormality of skeletal physiology Limited elbow flexion Recurrent respiratory infections Decreased hip abduction Low back pain Abnormality of the knee Abnormality of tibia morphology Exostoses Proportionate short stature Pneumonia Respiratory tract infection Limited elbow extension Conical tooth Aplasia of the sweat glands Periorbital wrinkles Recurrent infection of the gastrointestinal tract Anhidrotic ectodermal dysplasia Lymphocytosis Concave nasal ridge Heat intolerance Sparse hair Agammaglobulinemia Anhidrosis Hypohidrosis Bronchiectasis Chronic diarrhea Sparse scalp hair Fine hair Disproportionate short stature Broad hallux Abnormality of the skeletal system Pectus excavatum Finger syndactyly Pectus carinatum Polyhydramnios Agenesis of corpus callosum Inguinal hernia Clinodactyly Obesity Lymphedema Motor delay Recurrent streptococcus pneumoniae infections Conical incisor Periorbital edema Cellulitis Osteomyelitis Brain atrophy Molar tooth sign on MRI Back pain Delayed skeletal maturation Accelerated skeletal maturation Short thumb Lumbar hyperlordosis Joint stiffness Hyperlordosis Severe short stature Ankle pain Enlarged joints Knee osteoarthritis Flattened epiphysis Hip dysplasia Limitation of joint mobility Short palm Proximal muscle weakness Myopathy Defective production of NFKB1-dependent cytokines Ventricular hypertrophy Bulbous nose Overgrowth Elevated erythrocyte sedimentation rate Urticaria Reduced bone mineral density Purpura Vasculitis Meningitis Premature birth Amyloidosis Lymphadenopathy Nausea and vomiting Papule Skin rash Myalgia EEG abnormality Progressive sensorineural hearing impairment Uveitis Blindness Cataract Corneal opacity Osteopenia Hypothyroidism Brachycephaly Pes cavus Flexion contracture Micrognathia Juvenile rheumatoid arthritis Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Abnormal thrombocyte morphology Splenomegaly Edema Left ventricular hypertrophy Rickets Glycosuria Hyperparathyroidism Tibial bowing Femoral bowing Hypophosphatemia Bowing of the legs Hypercalcemia Spinal cord compression Elevated alkaline phosphatase Hypercalciuria Abnormality of pelvic girdle bone morphology Nephrocalcinosis Hypocalcemia Bone pain Osteomalacia Renal tubular dysfunction Hepatomegaly Pseudo-fractures Visual impairment Anemia Tertiary hyperparathyroidism Shortening of the talar neck Flattening of the talar dome Trapezoidal distal femoral condyles Polyostotic fibrous dysplasia Hyperphosphatemia Hypomineralization of enamel Fibular bowing Hypocalciuria Renal phosphate wasting Hypophosphatemic rickets Tetany Elevated circulating parathyroid hormone level Cortical diaphyseal thickening of the upper limbs



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