Frontal bossing, and Arthralgia

Diseases related with Frontal bossing and Arthralgia

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

Top matches:

Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia (see this term) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait.

CHILDHOOD-ONSET HYPOPHOSPHATASIA Is also known as childhood-onset phosphoethanolaminuria|childhood-onset rathburn disease

Related symptoms:

  • Seizures
  • Short stature
  • Pain
  • Motor delay
  • Frontal bossing


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CHILDHOOD-ONSET HYPOPHOSPHATASIA

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

Other less relevant matches:

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

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

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

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

High 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

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

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 Frontal bossing and Arthralgia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Proptosis Midface retrusion Brachydactyly Abnormal facial shape Gait disturbance Hypertension Depressivity Abnormality of the dentition Sensorineural hearing impairment Neoplasm Growth delay Muscle weakness Brachycephaly Waddling gait Hypertelorism Spinal canal stenosis Skeletal dysplasia Arthritis Motor delay Myopathy

Rare Symptoms - Less than 30% cases

Kyphosis Diabetes mellitus Thickened skin Global developmental delay Myalgia Coarse facial features Flexion contracture Macrocephaly Scarring Long philtrum Hypoplasia of the maxilla Mitral regurgitation Visual impairment Joint dislocation Ankylosis Anemia Intellectual disability Fatigue Recurrent otitis media Migraine Otitis media Overgrowth Spinal cord compression Tibial bowing Cataract Hyperhidrosis Arthropathy Abnormality of pelvic girdle bone morphology Malar flattening Delayed closure of the anterior fontanelle Joint swelling Scoliosis Micrognathia Dysuria High palate Disproportionate short stature Hyperlordosis Osteoporosis Bowing of the legs Thick lower lip vermilion Genu valgum Micromelia Acanthosis nigricans Genu varum Mild short stature Abnormal joint morphology Multiple epiphyseal dysplasia Sleep apnea Osteochondritis Dissecans Hip contracture Severe short stature Epiphyseal dysplasia Growth abnormality Limited elbow extension Lumbar hyperlordosis Back pain Tapered finger Long face Wide nose Bifid uvula Retinal detachment Flat face Generalized hyperpigmentation Congenital cataract Paresthesia Platyspondyly Macroglossia Sparse hair Full cheeks Glaucoma Hypotrichosis Esotropia Ectodermal dysplasia Amblyopia Macrotia Anxiety Sparse eyelashes Coxa valga Sparse and thin eyebrow Hypohidrosis Hypertrophic cardiomyopathy Neoplasm of the endocrine system Sparse scalp hair High myopia Cerebral calcification Broad forehead Abnormality of the endocrine system Synophrys Broad foot Deep palmar crease Short nose Impotence Nystagmus Acne Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Large hands Macrodactyly Cerebral palsy Dysmenorrhea Pituitary prolactin cell adenoma Long penis Deep plantar creases Paraganglioma Galactorrhea Palpebral edema Widely spaced teeth Anteverted nares Anterior hypopituitarism Hypersomnia Myopia Tall stature Hoarse voice Generalized hirsutism Abnormality of the fingernails Abnormal toenail morphology Growth hormone excess Wide nasal bridge Epicanthus Low-set ears Cleft palate Strabismus Pheochromocytoma Seizures Meningeal calcification Ectopia lentis Short femoral neck Generalized joint laxity Osteopetrosis Megalencephaly Obstructive sleep apnea Abnormality of the elbow Neuroblastoma Myeloid leukemia Bowel incontinence Flared metaphysis Upper airway obstruction Spondyloepiphyseal dysplasia Chronic otitis media Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Paraparesis Clonus Short toe Communicating hydrocephalus Central apnea Recurrent urinary tract infections 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 Abnormality of femur morphology Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Cor pulmonale Rhizomelia Abnormal lung morphology Sparse eyebrow Ulnar bowing Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Anhidrotic ectodermal dysplasia Small distal femoral epiphysis Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Pierre-Robin sequence Aplasia cutis congenita Thickened calvaria Small proximal tibial epiphyses Generalized hypotonia Abnormality of the metaphysis Apnea Abnormal form of the vertebral bodies Tetraparesis Epidermal acanthosis Lymphoma Sleep disturbance Oral cleft Confusion Joint hyperflexibility Leukemia Cleft lip Delayed speech and language development Abnormality of the nervous system Conductive hearing impairment Rigidity Gastroesophageal reflux Weight loss Obesity Hydrocephalus Ventriculomegaly Hyperreflexia Mandibular prognathia Split hand Sclerotic cranial sutures Blue sclerae Fragile skin Bilateral talipes equinovarus Patent foramen ovale Hyperextensible skin Adducted thumb Delayed gross motor development Dental crowding Mitral valve prolapse Hypoplasia of the musculature Generalized muscle weakness Bruising susceptibility Joint hypermobility Arachnodactyly Talipes Protruding ear Camptodactyly Telecanthus Facial hypotonia Ventricular hypertrophy Inguinal hernia Femoral bowing Hypophosphatemic rickets Tetany Elevated circulating parathyroid hormone level Hyperphosphatemia Renal tubular dysfunction Osteomalacia Glycosuria Hyperparathyroidism Hypophosphatemia Left ventricular hypertrophy Metaphyseal irregularity Rickets Hypercalcemia Elevated alkaline phosphatase Hypercalciuria Nephrocalcinosis Hypocalcemia Bone pain Narrow mouth Hernia Hypocalciuria Elevated urine pyrophosphate Abnormality of epiphysis morphology Hip dysplasia Limitation of joint mobility Hypodontia Short palm Proximal muscle weakness Phosphoethanolaminuria Elevated plasma pyrophosphate Small epiphyses Skin dimple over apex of long bone angulation Low alkaline phosphatase Rachitic rosary Premature loss of primary teeth Hypoplasia of dental enamel Carious teeth Dolichocephaly Craniosynostosis Irregular epiphyses Hypoplasia of the capital femoral epiphysis Cerebral atrophy Abnormality of tibia morphology Talipes equinovarus Downslanted palpebral fissures Abnormality of skeletal physiology Quadriceps muscle atrophy Limited elbow flexion Decreased hip abduction Low back pain Abnormality of the knee Exostoses Flattened epiphysis Proportionate short stature Broad hallux Accelerated skeletal maturation Short thumb Joint stiffness Delayed skeletal maturation Ankle pain Knee osteoarthritis Renal phosphate wasting Fibular bowing Distal tapering of metatarsals Osteolysis Ankle contracture Narrow nasal bridge Abnormality of the thyroid gland Abnormality of the ear Hypermelanotic macule Abnormality of the thorax Metaphyseal widening Knee flexion contracture Vertebral compression fractures Gingival overgrowth Decreased body weight Subcutaneous nodule Hypertrichosis Interphalangeal joint contracture of finger Delayed eruption of teeth Small hand Hirsutism Antinuclear antibody positivity Generalized osteoporosis Corneal opacity Metatarsal osteolysis Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metacarpal osteolysis Wrist flexion contracture Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Camptodactyly of toe Generalized hypertrichosis Bulbous nose Pes planus Hypomineralization of enamel Blindness Premature birth Lymphadenopathy Nausea and vomiting Papule Skin rash EEG abnormality Hepatosplenomegaly Splenomegaly Edema Vasculitis Fever Hepatomegaly Tertiary hyperparathyroidism Shortening of the talar neck Flattening of the talar dome Trapezoidal distal femoral condyles Pseudo-fractures Polyostotic fibrous dysplasia Meningitis Purpura Osteopenia Elevated C-reactive protein level Kyphoscoliosis Hypothyroidism Pes cavus Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Abnormal thrombocyte morphology Increased intracranial pressure Juvenile rheumatoid arthritis Uveitis Amyloidosis Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Reduced bone mineral density Lumbar kyphosis in infancy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Toe syndactyly, related diseases and genetic alterations