Frontal bossing, and Rheumatoid arthritis

Diseases related with Frontal bossing and Rheumatoid arthritis

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

Top matches:

High 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

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

Other less relevant matches:

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

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

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

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

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

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 Frontal bossing and Rheumatoid arthritis

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

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


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