Arthritis, and Broad forehead

Diseases related with Arthritis and Broad forehead

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


Top matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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

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Other less relevant matches:

Medium match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Medium match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Medium match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match ISOLATED BRACHYCEPHALY


Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Low match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH


Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Low match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Top 5 symptoms//phenotypes associated to Arthritis and Broad forehead

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Broad forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Talipes equinovarus Short neck Kyphosis Skeletal dysplasia High palate Global developmental delay Osteoarthritis Coarse facial features Platyspondyly Ptosis Kyphoscoliosis Delayed skeletal maturation Genu valgum Nystagmus Pectus carinatum Widely spaced teeth Frontal bossing Hernia Midface retrusion Malar flattening Cleft palate Mitral regurgitation Cataract Proptosis Hyperlordosis Hydrocephalus Mitral valve prolapse Pulmonic stenosis Macrocephaly Depressivity Short thorax Mandibular prognathia Dolichocephaly

Rare Symptoms - Less than 30% cases


Pes planus Brachydactyly Motor delay Macrotia Macroglossia Abnormal facial shape Patellar dislocation Long face Arthralgia Tall stature Anxiety Low-set ears Camptodactyly High anterior hairline Thick eyebrow Micrognathia Spondylolisthesis Abnormality of the sternum Cognitive impairment Delayed speech and language development Posteriorly rotated ears Optic atrophy Atrial septal defect Abnormality of the skeletal system Downslanted palpebral fissures Arthropathy Highly arched eyebrow Hallux valgus Tricuspid regurgitation Heart murmur Sparse eyebrow Psychosis Joint dislocation Aortic valve stenosis Bowing of the long bones Increased intracranial pressure Abnormality of the dentition Scaphocephaly Retinal degeneration Gait disturbance Limitation of joint mobility Abnormality of epiphysis morphology Coxa vara Generalized hypotonia Growth delay Sensorineural hearing impairment Muscle weakness Muscular hypotonia Pain Hypertension Respiratory tract infection Flat face Bowing of the legs Spondyloepiphyseal dysplasia Growth abnormality Sleep apnea Rhizomelia Abnormal form of the vertebral bodies Lumbar hyperlordosis Severe short stature Limb undergrowth Waddling gait Paresthesia Retinal detachment Hip dislocation Micromelia Glaucoma Flattened epiphysis Barrel-shaped chest Narrow chest Spasticity Dermal translucency Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Corneal opacity Neurological speech impairment Ascending tubular aorta aneurysm Thoracic aortic aneurysm Arterial tortuosity Mental deterioration Hepatosplenomegaly Umbilical hernia Confusion Neurodegeneration Long toe Unilateral ptosis Progressive cerebellar ataxia Gliosis Delayed myelination Bilateral ptosis Sagittal craniosynostosis Dental malocclusion Decreased antibody level in blood Otitis media Hip dysplasia Peripheral demyelination Hemangioma Optic disc pallor Type II diabetes mellitus Osteopenia Recurrent respiratory infections Gait ataxia Dysarthria Cystic medial necrosis Multiple suture craniosynostosis Pulmonary artery aneurysm Descending thoracic aorta aneurysm Generalized arterial tortuosity Skeletal muscle atrophy Hyperreflexia Curly hair Bicuspid pulmonary valve Biconvex vertebral bodies Hepatomegaly Epicanthus Depressed nasal bridge Ataxia Ascending aortic dissection Ventriculomegaly Prominent forehead Cerebral atrophy Strabismus Babinski sign Inguinal hernia Dural ectasia Areflexia Recurrent infections Immunodeficiency Intellectual disability, severe Splenomegaly Intellectual disability, mild Absent eyebrow Behavioral abnormality Long thorax Myopathy Cerebellar atrophy Abnormal heart valve morphology Fine hair Decreased pulmonary function Peripheral neuropathy Anteverted nares Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Cardiomyopathy Generalized abnormality of skin Synovial hypertrophy Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Progressive joint destruction Flattened moderately deformed vertebrae Cranial hyperostosis Arrhythmia Abnormality of the skin Prominent nose Joint hyperflexibility Short philtrum Abnormality of the pinna Seizures Astigmatism Pointed chin Celiac disease Adrenal medullary hypoplasia Abnormality of the musculature Megalencephaly Patellar subluxation Metacarpal synostosis Underdeveloped supraorbital ridges Cortical tubers Brachycephaly Spinocerebellar tract disease in lower limbs Abnormality of the gingiva Vacuolated lymphocytes Pancytopenia Spastic gait Flat occiput Sparse hair Chronic otitis media Prominent supraorbital ridges Peripheral axonal neuropathy Recurrent bacterial infections Narrow palate Low anterior hairline Hallucinations Low-set, posteriorly rotated ears Limb ataxia Ichthyosis Gingival overgrowth Amblyopia Dental crowding Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Open bite Bowel incontinence Thoracolumbar kyphosis Dysostosis multiplex Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Abnormality of the helix Reduced ejection fraction Narrow nose Impaired smooth pursuit Neurodevelopmental delay Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Hyperkeratosis High forehead Bronchitis Thickened calvaria Femoral bowing Hydrocele testis Intervertebral disc degeneration Soft skin Joint swelling Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Palpebral edema Pheochromocytoma Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Acne Cerebral palsy Acanthosis nigricans Abnormality of the fingernails Anterior hypopituitarism Long penis Hoarse voice Flexion contracture Microtia Camptodactyly of finger Conductive hearing impairment Pectus excavatum Abnormality of cardiovascular system morphology Long philtrum Ventricular septal defect Cortical diaphyseal thickening of the upper limbs Paraganglioma Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Generalized hirsutism Thickened skin Short distal phalanx of finger Genu varum Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Restrictive ventilatory defect Vestibular dysfunction Back pain Abnormality of the metaphysis Myelopathy Abnormal lung morphology High myopia Pulmonary hypoplasia Autoimmunity Apnea Polydactyly Congestive heart failure Respiratory distress Ovoid vertebral bodies Limited elbow movement Thick lower lip vermilion Hyperhidrosis Migraine Full cheeks Tapered finger Wide nose Synophrys Hypertrophic cardiomyopathy Diabetes mellitus Fatigue Cervical myelopathy Neoplasm Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Limited hip movement Talipes Delayed eruption of teeth Dilatation of the cerebral artery Hypospadias Facial asymmetry Craniosynostosis Joint laxity Retrognathia Clinodactyly of the 5th finger Patent ductus arteriosus Clinodactyly Dilatation Thin vermilion border Fixed elbow flexion Deviation of the 5th finger Multiple carpal ossification centers Limited hip extension Generalized bone demineralization Tricuspid stenosis Anisospondyly Intervertebral space narrowing Arachnodactyly Bruising susceptibility Sclerotic vertebral endplates Arnold-Chiari malformation Rhinitis Aortic root aneurysm Atrophic scars Disproportionate tall stature Myopathic facies Aortic aneurysm Ectopia lentis Bicuspid aortic valve Bifid uvula Microretrognathia Finger clinodactyly Joint contracture of the hand Exotropia Blue sclerae Eczema Postaxial hand polydactyly Asthma Narrow vertebral interpedicular distance Shoulder dislocation Short metacarpal Delayed gross motor development Tibial bowing Limited elbow extension Short femoral neck Bilateral talipes equinovarus Hypoplasia of the ulna Cubitus valgus Elbow dislocation Aortic regurgitation Thin ribs Spina bifida occulta Bilateral single transverse palmar creases Spina bifida Sparse and thin eyebrow Ventricular hypertrophy Pulmonary arterial hypertension Microdontia Wide intermamillary distance Vertebral fusion Short humerus Multiple joint dislocation Coronal cleft vertebrae Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Frontal upsweep of hair Ulnar bowing Hypoplasia of the capital femoral epiphysis Irregular epiphyses Irregular vertebral endplates Shield chest Small epiphyses Enlarged joints Disproportionate short-trunk short stature Mitral stenosis Short 4th metacarpal Abnormality of the elbow Thoracic kyphosis Neuropathic arthropathy



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