Arthritis, and Dandy-Walker malformation

Diseases related with Arthritis and Dandy-Walker malformation

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


Top matches:

Medium match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT


The JPHT syndrome includes the features of both the juvenile polyposis syndrome (JPS ) and hereditary hemorrhagic telangiectasia (HHT ) in a single individual. JPS is characterized by hamartomatous polyps occurring throughout the gastrointestinal tract, resulting in an increased risk of gastrointestinal cancer, and HHT is a vascular dysplasia characterized by telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations (AVMs) of the lungs, liver, brain, and gastrointestinal tract (summary by Gallione et al., 2010).

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT Is also known as jps/hht|polyposis, generalized juvenile, with pulmonary arteriovenous malformation|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|juvenile polyposis with hereditary hemorrhagic telangiectasia|jp/hht syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Ventriculomegaly
  • Dilatation
  • Visual loss


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JPHT

Low match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

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Other less relevant matches:

Low match ACHONDROPLASIA; ACH


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

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6


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 DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007).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, 6; MDDGA6 Is also known as walker-warburg syndrome or muscle-eye-brain disease, large-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6; MDDGA6

Low match HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3


HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 3, formerly

Related symptoms:

  • Abnormal facial shape
  • Ventriculomegaly
  • Hydrocephalus
  • Cerebellar hypoplasia
  • Polyhydramnios


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES; HYC3

Low match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Low match HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS


Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS Is also known as glutamic acid, deficient gamma-carboxylation of|familial multiple coagulation factor deficiency iii|vitamin k-dependent coagulation defect|fmfd iii|hereditary combined deficiency of factors ii, vii, ix and x|multiple coagulation factor deficiency iii|mcfd

Related symptoms:

  • Cataract
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

Low match B4GALT1-CDG


B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.

B4GALT1-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iid|beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|cdg2d|cdg iid|congenital disorder of glycosylation type iid|cdgiid|cdg-iid|cdg syndrome type iid

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Macrocephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about B4GALT1-CDG

Low match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Dandy-Walker malformation

Symptoms // Phenotype % cases
Ventriculomegaly Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cerebellar hypoplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Dandy-Walker malformation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Flexion contracture Macrocephaly Global developmental delay Dilatation Hyperreflexia Anemia

Rare Symptoms - Less than 30% cases


Muscular hypotonia Epistaxis Brain atrophy Elevated serum creatine phosphokinase Stroke Akinesia Cystic hygroma Neurodegeneration Neoplasm Cataract Delayed speech and language development Hypertension Scoliosis Growth delay Cerebral calcification Motor delay Lissencephaly Optic atrophy Polyhydramnios Abnormal facial shape Hydranencephaly Dementia Severe hydrocephalus Depressed nasal bridge Gait ataxia Rigidity Weight loss Aggressive behavior Abnormality of the skeletal system Abnormality of the cerebral white matter Lumbar kyphosis in infancy Intellectual disability, profound Spinal stenosis with reduced interpedicular distance Type II lissencephaly Chronic otitis media Myelitis Congenital muscular dystrophy Trident hand Areflexia Feeding difficulties Retinal dysplasia Hypoplasia of the pons Muscular dystrophy Severe muscular hypotonia Myopia Polymicrogyria Bowel incontinence Spondyloepiphyseal dysplasia Obstructive sleep apnea Dysuria Upper airway obstruction Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Abnormality of the elbow Abnormality of femur morphology Spinal canal stenosis Hip contracture Neuroblastoma Disproportionate short stature Myeloid leukemia Tibial bowing Limited elbow extension Central apnea Cor pulmonale Limited hip extension Hypopnea Flared metaphysis Brain stem compression Childhood onset short-limb short stature Short femoral neck Small foramen magnum Iritis Cervical cord compression Cerebellar cyst Multiple epiphyseal dysplasia Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Obstructive lung disease Intrauterine growth retardation Diffuse white matter abnormalities Stroke-like episode Inguinal hernia Intellectual disability, severe Spasticity Cryptorchidism Sensorineural hearing impairment Strabismus Abnormality of coagulation Cerebral cortical atrophy Abnormality of the coagulation cascade Myopathy Congenital shortened small intestine Calcification of cartilage Abnormality of the cervical spine Ectopic calcification Joint hemorrhage Prominent forehead Mandibular prognathia Prolonged partial thromboplastin time Choreoathetosis High-frequency hearing impairment Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Pointed chin Narrow face Prominent nose High forehead Thick vermilion border Long face Wide mouth Protruding ear Deeply set eye Difficulty walking Coarse facial features Peripheral pulmonary artery stenosis Ecchymosis Frontoparietal polymicrogyria Skeletal muscle atrophy Hypsarrhythmia Decreased fetal movement Premature birth Arthrogryposis multiplex congenita Agenesis of corpus callosum Abnormality of metabolism/homeostasis Back pain Pterygium Visual impairment Low-set ears Cleft palate Micrognathia Microcephaly Preeclampsia Holoprosencephaly Microretrognathia Hypoplasia of the brainstem Pulmonary artery stenosis Short phalanx of finger Epiphyseal stippling Celiac disease Cerebral hemorrhage Intestinal obstruction Cupped ear Intracranial hemorrhage Abnormal vertebral morphology Abnormal bleeding Fetal akinesia sequence Short distal phalanx of finger Bruising susceptibility Malabsorption Congenital cataract Short nose Multiple pterygia Limb joint contracture Epiphyseal dysplasia Recurrent otitis media Genu varum Upper limb undergrowth Mania Paranoia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Restlessness Neuronal loss in basal ganglia Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Obsessive-compulsive behavior Personality changes Abnormal involuntary eye movements Suicidal ideation Slurred speech Mitral regurgitation Iron deficiency anemia Colon cancer Clubbing Aortic aneurysm Hemangioma Telangiectasia Hemiparesis Frequent temper tantrums Abnormality of extrapyramidal motor function Mitral valve prolapse Gastrointestinal hemorrhage Joint hypermobility Arrhythmia Visual loss Oral motor hypotonia Rheumatoid arthritis Incoordination Aortic dissection Dystonia Mental deterioration Anxiety Hyperactivity Diabetes mellitus Myoclonus Depressivity Behavioral abnormality Cough Cerebellar atrophy Dysphagia Gait disturbance Tremor Dysarthria Cognitive impairment Irritability Abnormality of eye movement Hyperkinesis Generalized-onset seizure Schizophrenia Involuntary movements Clumsiness Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Bradykinesia Infertility Neuronal loss in central nervous system Chorea Gliosis Progressive cerebellar ataxia Abnormal cerebellum morphology Falls Abnormality of movement Subarachnoid hemorrhage Hematochezia Abnormality of pelvic girdle bone morphology Micromelia Overgrowth Otitis media Lymphoma Sleep disturbance Oral cleft Confusion Joint hyperflexibility Epidermal acanthosis Leukemia Scarring Hyperlordosis Apnea Cleft lip Abnormality of the nervous system Lumbar hyperlordosis Tetraparesis Arthralgia Paraparesis Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Clonus Osteoarthritis Short toe Rhizomelia Recurrent urinary tract infections Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Ataxia Conductive hearing impairment Skeletal dysplasia Arteriovenous malformation Juvenile gastrointestinal polyposis Osteopenia Pneumonia Immunodeficiency Short neck Wide nasal bridge Hypertelorism Intrapulmonary shunt Generalized myoclonic seizures Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Gastrointestinal carcinoma Cerebral arteriovenous malformation Hamartomatous polyposis Cavernous hemangioma Umbilical hernia Short metacarpal Gastroesophageal reflux Pain Severe short stature Obesity Midface retrusion Malar flattening Frontal bossing Brachydactyly Hearing impairment Short metatarsal Short stature Thin lower lip vermilion Lacrimal duct stenosis Underdeveloped supraorbital ridges Combined immunodeficiency Ectopic kidney Cone-shaped epiphysis Abnormality of the basal ganglia



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

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