Frontal bossing, and Proximal muscle weakness

Diseases related with Frontal bossing and Proximal muscle weakness

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

Top 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

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

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

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

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

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

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Top 5 symptoms//phenotypes associated to Frontal bossing and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Hearing impairment Failure to thrive Skeletal muscle atrophy Abnormal facial shape Growth delay Cerebral atrophy Facial palsy Bone pain Intellectual disability Seizures Myopathy Gait disturbance Increased intracranial pressure Difficulty walking Hydrocephalus Short stature

Rare Symptoms - Less than 30% cases

Sparse bone trabeculae Bulging epiphyses Fibular bowing Enlargement of the costochondral junction Deformed rib cage Midface retrusion Difficulty standing Enlargement of the ankles Widely patent fontanelles and sutures Enlargement of the wrists Thin bony cortex Muscular dystrophy Ventriculomegaly Hyperostosis Cataract Downslanted palpebral fissures Long philtrum Motor delay Delayed speech and language development High palate Low-set ears Narrow mouth Tetraparesis Joint hypermobility Polymicrogyria Adducted thumb Overgrowth Hypoplasia of the corpus callosum Deeply set eye Delayed epiphyseal ossification Bulging of the costochondral junction Feeding difficulties in infancy Kyphosis Arthralgia Genu valgum Limitation of joint mobility Waddling gait Tibial bowing Scoliosis Ataxia Muscular hypotonia Recurrent fractures Atrial septal defect Metaphyseal irregularity Glaucoma Elevated alkaline phosphatase Headache Rickets Femoral bowing Hypophosphatemia Mandibular prognathia Flat occiput Bowing of the legs Neoplasm of the thyroid gland Fibroadenoma of the breast Renal phosphate wasting Abnormality of abdomen morphology Hypophosphatemic rickets Renal tubular dysfunction Acrokeratosis Osteomalacia Hypercalciuria Nephrolithiasis Transitional cell carcinoma of the bladder Inguinal hernia Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Enlarged cerebellum Calcium nephrolithiasis Colorectal polyposis Increased serum 1,25-dihydroxyvitamin D3 Endometrial carcinoma Follicular thyroid carcinoma Talipes equinovarus Varicocele Hernia Thyroid adenoma Cutis marmorata telangiectatica congenita Portal fibrosis Trichilemmoma Sensorineural hearing impairment Abnormality of the skeletal system Syndactyly Gait ataxia Lobular carcinoma in situ Facial asymmetry Dental malocclusion Nail dysplasia Small nail Multiple trichilemmomata Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Elevated hepatic transaminase Narrow foot Merkel cell skin cancer Pulmonic stenosis Poor speech Hepatic steatosis Ductal carcinoma in situ Conjunctival hamartoma Coarctation of aorta Progressive muscle weakness Dysplastic gangliocytoma of the cerebellum Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Hypermethioninemia Cholestasis Arachnodactyly Brachycephaly Reduced xanthine dehydrogenase activity Elevated serum creatine phosphokinase Areflexia Microphthalmia Respiratory insufficiency Aldehyde oxidase deficiency Absent urinary urothione Decreased urinary urate Increased urinary thiosulfate Increased urinary sulfite Retrognathia Decreased urinary sulfate Xanthine nephrolithiasis Sulfite oxidase deficiency Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Increased urinary taurine Abnormal muscle tone Cerebellar hypoplasia Microtia Myoclonic spasms Hypoplasia of the brainstem Agyria Type II lissencephaly Peters anomaly Corpus callosum atrophy Retinal dysplasia Gonadal dysgenesis Weak cry Partial agenesis of the corpus callosum Congenital muscular dystrophy Retinal detachment Optic nerve hypoplasia Lissencephaly Large fontanelles Heterotopia Pachygyria Encephalocele Intellectual disability, profound Decreased fetal movement Dandy-Walker malformation Hypouricemia Lens luxation Myalgia Mitral regurgitation Facial hypotonia Fragile skin Bilateral talipes equinovarus Patent foramen ovale Hyperextensible skin Delayed gross motor development Joint dislocation Dental crowding Blue sclerae Microcephaly Mitral valve prolapse Generalized muscle weakness Bruising susceptibility Ovarian carcinoma Talipes Scarring Protruding ear Camptodactyly Telecanthus Hypoplasia of the musculature Nystagmus Axonal loss Peripheral demyelination Opisthotonus Ectopia lentis Hemiplegia Poor head control Spastic tetraparesis Progressive microcephaly Spastic tetraplegia Neuronal loss in central nervous system Brain atrophy Feeding difficulties Full cheeks Gliosis Thick vermilion border Long face Severe global developmental delay EEG abnormality Short nose Hypertonia Hyperreflexia Intestinal polyp Meningioma Angioid streaks of the fundus Metaphyseal dysplasia Facial paralysis Abnormality of the ulna Raynaud phenomenon Gangrene Abnormality of the skull Poor appetite Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Elevated erythrocyte sedimentation rate Abnormality of tibia morphology Reduced subcutaneous adipose tissue Cachexia Abnormality of pelvic girdle bone morphology Easy fatigability Tinnitus Leukopenia Coxa valga Vasculitis Slender build Abnormality of femur morphology Increased bone mineral density Diaphyseal sclerosis Neoplasm Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal dysplasia Cranial nerve compression Extramedullary hematopoiesis Abnormality of the radius Limb pain Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Bone marrow hypocellularity Diplopia Cognitive impairment Abnormal joint morphology Ankle pain Knee osteoarthritis Flattened epiphysis Osteochondritis Dissecans Hypoplasia of the capital femoral epiphysis Small epiphyses Irregular epiphyses Multiple epiphyseal dysplasia Mild short stature Flexion contracture Epiphyseal dysplasia Genu varum Abnormality of epiphysis morphology Osteoarthritis Hip dysplasia Hypodontia Short palm Micromelia Depressed nasal bridge Anemia Hepatomegaly Anorexia Hyperlordosis Lumbar hyperlordosis Delayed eruption of teeth Sensory neuropathy Vertigo Delayed puberty Carious teeth Neurological speech impairment Paralysis Hypertrophic cardiomyopathy Optic atrophy Abnormality of the nervous system Hepatosplenomegaly Pes planus Skeletal dysplasia Proptosis Hyperactivity Hypogonadism Splenomegaly Fatigue Micrognathia Brachydactyly Abnormality of the penis Thyroiditis Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Megalencephaly Hyperthyroidism Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Skin tags Hydrocele testis Cutis marmorata Papilloma Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Enlarged polycystic ovaries Arteriovenous malformation Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Macule Melanocytic nevus Myopia Intellectual disability, moderate Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Nausea and vomiting Papule Leukemia Abnormality of the kidney Carcinoma Decreased antibody level in blood Hypothyroidism Autism Pectus excavatum Recurrent infections Dilatation Immunodeficiency Intellectual disability, mild Diarrhea Tremor Lymphoma Intention tremor Hand polydactyly Hemangioma Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Drooling Broad thumb Cranial nerve paralysis Neoplasm of the skin Lymphopenia Gynecomastia Cafe-au-lait spot Exotropia Chronic diarrhea Telangiectasia Subcutaneous nodule Remnants of the hyaloid vascular system


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