Microcephaly, and Arthritis

Diseases related with Microcephaly and Arthritis

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

Top matches:

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Low match RIDDLE SYNDROME

A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Other less relevant matches:

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

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Top 5 symptoms//phenotypes associated to Microcephaly and Arthritis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Micrognathia Inguinal hernia Hypertelorism Generalized hypotonia High palate Short neck Failure to thrive Nasal speech Hydrocephalus Thrombocytopenia Telecanthus Low-set ears Neoplasm Fever Purpura Cataract Depressivity Specific learning disability Atrial septal defect Abnormality of cardiovascular system morphology Immunodeficiency Hypothyroidism Strabismus Bulbous nose Umbilical hernia Posteriorly rotated ears Blepharophimosis Ataxia Posterior embryotoxon Anal atresia Narrow mouth Feeding difficulties in infancy Cholelithiasis Flexion contracture Wide nasal bridge Small for gestational age Ptosis Cryptorchidism Schizophrenia Joint hyperflexibility Short philtrum Postnatal growth retardation Low posterior hairline Bipolar affective disorder Hypocalcemia Underdeveloped nasal alae Hypoparathyroidism Meningocele Anemia Hyperactivity Muscular hypotonia Rheumatoid arthritis Truncus arteriosus Seborrheic dermatitis Impaired T cell function Apathy Growth delay Diarrhea Hemolytic anemia Acne Spina bifida Autoimmunity Headache Abnormal heart morphology Hypospadias Conductive hearing impairment Anxiety Delayed speech and language development Cognitive impairment Ventricular septal defect Behavioral abnormality Obesity Patent ductus arteriosus Cleft palate Tetralogy of Fallot Constipation

Rare Symptoms - Less than 30% cases

Conotruncal defect Myelomeningocele Juvenile rheumatoid arthritis Intellectual disability, mild Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Platybasia Right aortic arch Tetany Duodenal stenosis Retinal vascular tortuosity Aplasia of the thymus Hydronephrosis Arteria lusoria Craniosynostosis Renal dysplasia Upslanted palpebral fissure Broad thumb Short palpebral fissure Right aortic arch with mirror image branching Sacral meningocele Aciduria Gastrointestinal hemorrhage Microphthalmia Attention deficit hyperactivity disorder Myalgia Arnold-Chiari malformation Abnormality of the dentition Chorea Intrauterine growth retardation Autoimmune hemolytic anemia Long face Abnormality of the hand Psoriasiform dermatitis Unilateral renal agenesis Smooth philtrum Gastroesophageal reflux Malabsorption Congenital cataract Coarctation of aorta Inflammation of the large intestine Abnormality of the pinna Retrognathia Mental deterioration Autoimmune thrombocytopenia Bifid uvula Vesicoureteral reflux Renal agenesis Recurrent infections Dementia Amenorrhea Hypoplasia of the corpus callosum Intellectual disability, severe Bicuspid aortic valve Vitiligo Aggressive behavior Hypertension Primary amenorrhea Prominent nasal bridge Brachydactyly Psychosis Long eyelashes Erythema Pneumonia Celiac disease Hypertonia Long philtrum Malar flattening Villous atrophy Glaucoma Mandibular prognathia Gait disturbance Kyphoscoliosis Epicanthus Abdominal pain Deeply set eye Weight loss Hypoplasia of the brainstem Hip dislocation Recurrent pneumonia Otitis media Dental malocclusion Talipes equinovarus Cerebellar atrophy Muscle weakness Hypoplasia of the thymus Renal insufficiency Vomiting Sepsis Episodic fever Splenomegaly Abdominal distention Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Small earlobe Persistent left superior vena cava Pulmonic stenosis Dysmetria Varicocele Expressive language delay Abnormality of the pharynx Arrhinencephaly Epididymal cyst Abnormal pulmonary valve morphology Retinal arteriolar tortuosity Abnormal aortic arch morphology Tricuspid atresia Mesocardia Hypertensive crisis Generalized cerebral atrophy/hypoplasia Occipital myelomeningocele Abnormal soft palate morphology Multiple suture craniosynostosis Absent speech Broad fingertip Hernia Curved fingers Anorectal anomaly Enlarged naris Abnormality of the tonsils Anterior segment developmental abnormality Short upper lip Preauricular pit Abnormality of pelvic girdle bone morphology Lipoma Sprengel anomaly Short clavicles Genu varum Proportionate short stature Spinal canal stenosis High pitched voice Impulsivity Sleep apnea Clubbing Language impairment Trigonocephaly Abnormality of the voice Abnormality of the fingernails Nephrocalcinosis Finger clinodactyly Abnormality of the elbow Abnormality of femur morphology Cone-shaped epiphyses of the phalanges of the hand Short columella Spinal dysraphism Hyperextensibility of the finger joints Macrocephaly Stiff neck Skeletal dysplasia Hyperlordosis Abnormal thrombocyte morphology Tethered cord Micromelia Broad columella Speech apraxia Abnormality of the clavicle Enlarged joints Osteoarthritis Abnormality of the metaphysis 11 pairs of ribs Abnormal form of the vertebral bodies Bowing of the long bones Short toe Enuresis Short attention span Abnormal aortic valve morphology Abnormality of the skull Corneal neovascularization Parathyroid agenesis Esophoria Accommodative esotropia Psychotic episodes Decreased circulating parathyroid hormone level Velopharyngeal insufficiency Giant platelets Parathyroid hypoplasia Paranoia Type I truncus arteriosus Central nervous system degeneration Optic atrophy Mood swings Downslanted palpebral fissures Autism Polyhydramnios Carious teeth Arachnodactyly Asthma Vascular tortuosity Abnormality of the thymus Pulmonary artery atresia Abnormality of the kidney Exotropia Amblyopia High, narrow palate Iris coloboma Polymicrogyria Astigmatism Generalized tonic-clonic seizures Microtia Cleft lip Vascular ring Unilateral primary pulmonary dysgenesis Femoral hernia Unilateral lung agenesis Alcoholism Perisylvian polymicrogyria Congenital conductive hearing impairment Abnormality of the middle ear Perineal fistula Intestinal malrotation Abnormality of the endocrine system Abnormality of the uterus Multicystic kidney dysplasia Obsessive-compulsive behavior Foot polydactyly Dysdiadochokinesis Abnormal lung lobation Turricephaly Patellar dislocation Holoprosencephaly Narrow palpebral fissure Multiple renal cysts Bowel incontinence Sclerocornea Hallucinations Abnormal eyelid morphology Open mouth Varicose veins Atelectasis Chronic obstructive pulmonary disease Peripheral demyelination Hyperthyroidism Myopathic facies Echolalia Laryngomalacia Renal hypoplasia Pierre-Robin sequence Delusions Choanal atresia Aganglionic megacolon Abnormality of dental enamel Hypopigmented skin patches Hearing abnormality Polycystic kidney dysplasia Abnormality of the ear Hand polydactyly Abnormality of the thorax Overfolded helix Chronic otitis media Dysphasia Anal stenosis Submucous cleft hard palate Axonal loss Basal ganglia calcification Generalized hirsutism Diffuse hepatic steatosis Short thumb Shoulder flexion contracture Hepatosplenomegaly Arthralgia Hyperhidrosis Rod-cone dystrophy Blindness Frontal bossing Fatigue Hepatomegaly Pain Chin with H-shaped crease Whistling appearance Ulnar deviation of the hand or of fingers of the hand Nyctalopia Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Breech presentation Trismus Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Pallor Skin rash Congenital contracture Vasculitis Peripheral visual field loss Uveitis Subcapsular cataract Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Intestinal obstruction Urticaria Conjunctivitis Nephrotic syndrome Cough Optic disc pallor Eczema Dehydration Migraine Limitation of joint mobility Retinal dystrophy Nausea Lymphadenopathy Vertigo Infertility Papule Rocker bottom foot Pterygium Posterior subcapsular cataract Abnormality of the cerebral white matter Recurrent sinusitis Bronchitis Interstitial pulmonary abnormality Restrictive ventilatory defect Pulmonary fibrosis Emotional lability Scaling skin Telangiectasia Clumsiness Abnormal lung morphology Dry skin Respiratory failure IgG deficiency Vaginal fistula Secretory diarrhea Intractable diarrhea Trichorrhexis nodosa Choanal stenosis Underdeveloped supraorbital ridges Long nose Abnormal intestine morphology Sloping forehead Coloboma Midface retrusion IgA deficiency Chronic sinusitis Adducted thumb Myopathy Spina bifida occulta Knee flexion contracture Joint contracture of the hand Intellectual disability, profound Abnormality of the skin Flat face Talipes Arthrogryposis multiplex congenita Camptodactyly Prominent forehead Short nose Poor hand-eye coordination Mild global developmental delay Chromosomal breakage induced by ionizing radiation Neonatal asphyxia Increased sensitivity to ionizing radiation Intraventricular hemorrhage Enuresis nocturna Elevated alpha-fetoprotein Generalized lymphadenopathy Conjunctival telangiectasia IgM deficiency Demyelinating peripheral neuropathy Recurrent viral infections Poor coordination Acrocyanosis Recurrent otitis media Urogenital fistula Hyperreflexia Thyroglossal cyst Cystathioninemia Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Delirium Abnormality of the skeletal system Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Dysarthria Dilatation Thromboembolism Thin vermilion border Interphalangeal joint contracture of finger Apraxia Hypoplasia of penis Microdontia Prominent nose Broad nasal tip Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Hirsutism Poor speech Clinodactyly Hypermetropia Neurological speech impairment Camptodactyly of finger Wide mouth Joint stiffness Intellectual disability, moderate Joint laxity Thin upper lip vermilion Babinski sign Clinodactyly of the 5th finger Delayed skeletal maturation Megaloblastic anemia Disproportionate tall stature Large forehead Nystagmus Macrotia High forehead Acidosis Reduced visual acuity Gait ataxia Cerebral cortical atrophy Congestive heart failure Respiratory insufficiency Tremor Visual impairment Feeding difficulties Pharyngitis Proteinuria Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Difficulty walking Retinopathy Ectopia lentis Memory impairment Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Recurrent urinary tract infections Broad-based gait Pulmonary arterial hypertension Pancytopenia Abnormality of extrapyramidal motor function Pigmentary retinopathy Urinary incontinence Lethargy Neutropenia Metabolic acidosis Hepatic steatosis Hematuria Nephropathy Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Paresthesia Unsteady gait Confusion Lower limb muscle weakness Childhood onset short-limb short stature


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