Arthritis, and Synophrys

Diseases related with Arthritis and Synophrys

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


Top matches:

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

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match RAMON SYNDROME


A slowly progressive syndrome of cherubic facies (fullness of the cheeks, producing a typical chubby face suggestive of a cherub) maxillary fibrous dysplasia, gingival enlargement, radiolucent lesions of the jaws, seizures, delayed mental development, stunted growth, and other defects. Insulin dependent diabetes mellitus and vascular skin lesions may occur.

RAMON SYNDROME Is also known as cherubism-gingival fibromatosis-intellectual disability syndrome|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAMON SYNDROME

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Other less relevant matches:

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


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

Low match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Low match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Low match ACROMEGALOID FACIAL APPEARANCE SYNDROME


Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low 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 NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

Top 5 symptoms//phenotypes associated to Arthritis and Synophrys

Symptoms // Phenotype % cases
Kyphosis Common - Between 50% and 80% cases
Thick eyebrow Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Gingival overgrowth Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features Hearing impairment Macroglossia Global developmental delay Sensorineural hearing impairment Tapered finger Scoliosis Hypertrichosis Seizures Hypertelorism Generalized hypotonia Diabetes mellitus Pes planus Highly arched eyebrow Kyphoscoliosis Cataract Hirsutism Abnormal facial shape Mandibular prognathia Strabismus Macrotia Micrognathia Short neck High palate Joint hypermobility Thickened skin Tall stature Frontal bossing

Rare Symptoms - Less than 30% cases


Nystagmus Motor delay Growth delay Respiratory tract infection Protruding ear Neurological speech impairment Muscular hypotonia Optic disc pallor Microcephaly Delayed eruption of teeth Retinopathy Failure to thrive Macrocephaly Depressed nasal bridge Obesity Joint hyperflexibility Genu valgum Delayed myelination Hypothyroidism Depressed nasal ridge Intellectual disability, mild Abnormality of skin pigmentation Pectus excavatum Hernia Myopia Everted lower lip vermilion Malar flattening Behavioral abnormality Thick vermilion border Small hand Abnormality of the skeletal system Ventriculomegaly Optic atrophy Recurrent infections Retinal degeneration Short philtrum Thick lower lip vermilion Acne Decreased body weight Cubitus valgus Widely spaced teeth Rheumatoid arthritis Generalized hirsutism Long eyelashes Cerebral atrophy Abnormality of retinal pigmentation Bulbous nose Full cheeks Epicanthus Low anterior hairline Broad forehead Cerebellar atrophy Anxiety Arthralgia Depressivity Abnormality of the dentition Large hands Craniofacial hyperostosis Corneal opacity Pigmentary retinopathy Hypoplasia of the maxilla Otitis media Osteolysis Gait ataxia Brachydactyly Narrow nasal bridge Skeletal muscle atrophy Gait disturbance Narrow palate Ataxia Osteopenia Palpebral edema Abnormal vagina morphology Hepatomegaly Frontal balding Abnormal lip morphology Hyperreflexia Cleft palate Renal agenesis Thick nasal alae Increased serum testosterone level Facial hirsutism Primary amenorrhea Amenorrhea Delayed speech and language development Aplasia of the vagina Shield chest Aplasia/Hypoplasia of the fallopian tube Unilateral renal agenesis Aplasia of the uterus Cognitive impairment Spasticity Pain Muscle weakness High anterior hairline Abnormality of the ovary Hypoplasia of the uterus Absent eyelashes Abnormality of the tongue Interphalangeal joint erosions Papule Scarring Erythema Alopecia Sclerotic cranial sutures Distal tapering of metatarsals Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Osteolysis involving tarsal bones Ichthyosis Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Contractures of the large joints Protrusio acetabuli Broad metatarsal Hypotrichosis Inflammatory abnormality of the skin Long nose Underdeveloped nasal alae Abnormality of the metacarpal bones Sloping forehead Blepharophimosis Prominent nasal septum Broad eyebrow Bifid nasal tip Widow's peak Anonychia Deep philtrum Small nail Upslanted palpebral fissure Sparse eyebrow Wide nasal bridge Abnormal perifollicular morphology Sunken cheeks Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Atopic dermatitis Aplasia/Hypoplasia of the skin Epiphora Spinal muscular atrophy Dysarthria Neoplasm Talipes equinovarus Abnormality of the rib cage Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Spondylolisthesis Oligosacchariduria Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Synostosis of joints Spondylolysis Thickened calvaria Spinocerebellar tract disease in lower limbs Bruxism Delayed ability to walk Involuntary movements Chorea Inability to walk Aggressive behavior Absent speech Dystonia Feeding difficulties Low-set ears Flattened moderately deformed vertebrae Increased vertebral height Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Bronchitis Abnormality of the sternum Hydrocephalus Skeletal dysplasia Neurodegeneration Confusion Dysmetria Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Pectus carinatum Mental deterioration Hepatosplenomegaly Umbilical hernia Prominent forehead Generalized hypertrichosis Recurrent respiratory infections Babinski sign Delayed skeletal maturation Inguinal hernia Areflexia Midface retrusion Immunodeficiency Splenomegaly Myopathy Intellectual disability, severe Progressive cerebellar ataxia Gliosis Femoral bowing Spastic gait Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Hallucinations Dental malocclusion Limb ataxia Amblyopia Bowing of the long bones Progressive neurologic deterioration Psychosis Pancytopenia Type II diabetes mellitus Peripheral demyelination Hip dysplasia Decreased antibody level in blood Camptodactyly of toe Slender toe Wrist flexion contracture Thin upper lip vermilion Stroke Nyctalopia Wide mouth Paralysis Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Neonatal hypotonia Retrognathia Small for gestational age Gastroesophageal reflux Reduced visual acuity Rod-cone dystrophy Cerebellar hypoplasia Clinodactyly of the 5th finger Visual loss Thrombocytopenia Dilatation Microphthalmia Prominent nasal bridge Finger syndactyly Edema Short metacarpal High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Progressive visual loss Convex nasal ridge Aciduria Growth hormone deficiency Prominent nose Microcornea Severe global developmental delay Neutropenia Single transverse palmar crease Retinal detachment High, narrow palate Retinal dystrophy Iris coloboma Arachnodactyly Astigmatism Smooth philtrum Delayed puberty Blindness Cardiomyopathy Open mouth Abnormality of the fingernails Growth hormone excess Joint swelling Spinal canal stenosis Generalized hyperpigmentation Impotence Growth abnormality Sleep apnea Cerebral palsy Acanthosis nigricans Hoarse voice Abnormal toenail morphology Mitral regurgitation Osteoarthritis Migraine Wide nose Long face Paresthesia Hypertrophic cardiomyopathy Hyperhidrosis Fatigue Broad foot Abnormality of the endocrine system Respiratory distress Macrodactyly Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Visual impairment Ptosis Cryptorchidism Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Dysmenorrhea Dysuria Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Lumbar hyperlordosis Clumsiness Delayed closure of the anterior fontanelle Cat cry Gingival fibromatosis Juvenile rheumatoid arthritis Telangiectasia of the skin Abnormality of dental enamel Telangiectasia Pallor Conductive hearing impairment Hyperkeratosis Hypertension Hypoplastic philtrum Angiokeratoma Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Abnormal anterior chamber morphology Axenfeld anomaly Chorioretinal dystrophy Hypermelanotic macule Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Arthropathy Abnormality of the thyroid gland Abnormality of the ear Abnormality of the thorax Enlarged labia minora Metaphyseal widening Knee flexion contracture Subcutaneous nodule Split hand Interphalangeal joint contracture of finger Proptosis Brachycephaly Osteoporosis Pes cavus Flexion contracture Cutis gyrata of scalp Laryngeal stenosis Exotropia Radioulnar synostosis Celiac disease Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Failure to thrive in infancy Intracranial hemorrhage Precocious puberty Subcapsular cataract Short metatarsal Reduced number of teeth Laryngomalacia Recurrent skin infections Venous thrombosis Leukopenia Sandal gap Intellectual disability, progressive Preauricular skin tag Progressive microcephaly Weak cry Thoracic scoliosis Hyperplasia of the maxilla Abnormality of the larynx Congenital neutropenia Granulocytopenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Bone spicule pigmentation of the retina Peripheral visual field loss Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Gingivitis Posterior subcapsular cataract Hiatus hernia Low frustration tolerance



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