Frontal bossing, and Myalgia

Diseases related with Frontal bossing and Myalgia

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

Top 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

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

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Other less relevant matches:

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B Is also known as 25-hydroxyvitamin d3 deficiency, selective|pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency|vitamin d-dependent rickets, type 1b

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

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

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as vdrr ii|vddr ii|vitamin d-dependent rickets type ii|hvdrr|hereditary vitamin d-resistant rickets|vitamin d-resistant rickets type ii

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH Is also known as hypercalciuric rickets

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Myalgia

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Arthralgia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Arthritis Generalized hypotonia Failure to thrive Gait disturbance Waddling gait Recurrent fractures Bone pain Bowing of the legs Joint dislocation Abnormal facial shape Hypophosphatemia Myopathy

Rare Symptoms - Less than 30% cases

Neoplasm Limitation of joint mobility Mild short stature Osteochondritis Dissecans Delayed skeletal maturation Abdominal pain Flexion contracture Cataract Enlargement of the costochondral junction Scoliosis Genu varum Enlargement of the ankles Seizures Bulging epiphyses Uveitis Amyloidosis Abnormal joint morphology Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Enlargement of the wrists Genu valgum Osteoarthritis Muscular hypotonia Tibial bowing Delayed epiphyseal ossification Flat occiput Metaphyseal irregularity Rickets Elevated alkaline phosphatase Thin bony cortex Difficulty standing Difficulty walking Bulging of the costochondral junction Femoral bowing Deformed rib cage Fibular bowing Dolichocephaly Vasculitis Premature loss of primary teeth Hypertelorism Posterior subcapsular cataract Subcapsular cataract Depressed nasal bridge Widely patent fontanelles and sutures Purpura Sparse bone trabeculae Nephrolithiasis Proptosis Osteomalacia Skeletal dysplasia Blindness Hepatomegaly Fatigue Hepatosplenomegaly Midface retrusion Fever Skin rash Brachydactyly Papule Lymphadenopathy Intellectual disability Motor delay Migraine Splenomegaly Carious teeth Increased serum 1,25-dihydroxyvitamin D3 Hypoplasia of dental enamel Calcium nephrolithiasis Micrognathia Low alkaline phosphatase Rachitic rosary Renal phosphate wasting Osteoporosis Hypophosphatemic rickets Skin dimple over apex of long bone angulation Elevated plasma pyrophosphate Elevated urine pyrophosphate Renal tubular dysfunction Phosphoethanolaminuria Abnormality of abdomen morphology Hypercalciuria Craniosynostosis Kyphoscoliosis Abnormality of the skeletal system Single transverse palmar crease Thoracic kyphoscoliosis Down-sloping shoulders Thoracic kyphosis Hepatocellular carcinoma Premature graying of hair Lipodystrophy Elbow flexion contracture Decreased body weight Triangular face Bulbous nose Skeletal muscle atrophy Hepatic failure Prominent nasal bridge Carcinoma Deeply set eye Pes planus Abnormal adipose tissue morphology Clinodactyly Pectus excavatum Kyphosis Proximal muscle weakness Rough bone trabeculation Micromelia Decreased hip abduction Hyperparathyroidism Abnormality of the hip bone Disproportionate short stature Proportionate short stature Joint swelling Exostoses Abnormality of the knee Low back pain Limited elbow flexion Broad hallux Quadriceps muscle atrophy Abnormality of skeletal physiology Abnormality of the thorax Abnormality of the dentition Alopecia Osteolysis Abnormality of the skin Abnormality of the metaphysis Hypocalcemia Limited elbow extension Back pain Short palm Small epiphyses Hypodontia Hip dysplasia Abnormality of epiphysis morphology Abnormal bone structure Epiphyseal dysplasia Abnormal form of the vertebral bodies Bone cyst Multiple epiphyseal dysplasia Irregular epiphyses Hypoplasia of the capital femoral epiphysis Growth abnormality Flattened epiphysis Knee osteoarthritis Ankle pain Severe short stature Hyperlordosis Joint stiffness Lumbar hyperlordosis Short thumb Accelerated skeletal maturation Abnormality of tibia morphology Large forehead Pharyngitis Nausea and vomiting Fragile skin Facial hypotonia Hypoplasia of the musculature Hearing impairment Sensorineural hearing impairment Anemia Visual impairment Macrocephaly Edema EEG abnormality Premature birth Patent foramen ovale Overgrowth Meningitis Increased intracranial pressure Reduced bone mineral density Progressive sensorineural hearing impairment Arthropathy Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Bilateral talipes equinovarus Hyperextensible skin Abnormality of neutrophils Camptodactyly High palate Downslanted palpebral fissures Talipes equinovarus Long philtrum Cerebral atrophy Hernia Inguinal hernia Brachycephaly Narrow mouth Telecanthus Protruding ear Adducted thumb Scarring Talipes Arachnodactyly Joint hypermobility Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Blue sclerae Mitral regurgitation Dental crowding Delayed gross motor development Inflammatory abnormality of the eye Pseudopapilledema Serositis Peripheral visual field loss Optic disc pallor Nephrotic syndrome Long eyelashes Recurrent pneumonia Conjunctivitis Apathy Intestinal obstruction Hypermelanotic macule Colitis Episodic fever Poor coordination Dehydration Acrocyanosis Peritonitis Recurrent aphthous stomatitis Chills Increased IgA level Neuritis Porokeratosis Erysipelas Neutrophilia Optic neuritis Cervical lymphadenopathy Eczema Aciduria Retrobulbar optic neuritis Rod-cone dystrophy Abnormal granulocyte morphology Microcephaly Ataxia Vomiting Diarrhea Renal insufficiency Headache Depressivity Constipation Pneumonia Hyperhidrosis Gastrointestinal hemorrhage Postnatal growth retardation Pallor Erythema Nyctalopia Cough Infertility Vertigo Nausea Retinal dystrophy Abdominal distention Sepsis Fulminant hepatic failure


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