Arthritis, and Intestinal malrotation

Diseases related with Arthritis and Intestinal malrotation

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


Top matches:

Low match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low match 22Q11.2 DELETION SYNDROME


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

Low match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

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Other less relevant matches:

Low match HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2


The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008).Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008).For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see {142623}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Intestinal malrotation
  • Aganglionic megacolon
  • Heterochromia iridis


SOURCES: OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2

Low match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM


Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60


Related symptoms:

  • Intellectual disability
  • Seizures
  • Absent speech
  • Tetraplegia
  • Brain atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60; EIEE60

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

Low match BLADDER EXSTROPHY


Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Related symptoms:

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis


SOURCES: ORPHANET MENDELIAN

More info about BLADDER EXSTROPHY

Low match PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Arthritis and Intestinal malrotation

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Atrial septal defect Intellectual disability Abnormal facial shape Low-set ears Conductive hearing impairment Ventricular septal defect Vesicoureteral reflux Aganglionic megacolon Anal atresia

Rare Symptoms - Less than 30% cases


Feeding difficulties in infancy Choanal atresia Tetralogy of Fallot Abnormality of the ribs Renal hypoplasia Omphalocele Short nose Sensorineural hearing impairment Global developmental delay Bowel incontinence Laryngomalacia Intrauterine growth retardation Downslanted palpebral fissures Carious teeth Arachnodactyly Short neck Hydrocephalus Malar flattening Abnormality of cardiovascular system morphology Thrombocytopenia Patent ductus arteriosus Constipation Umbilical hernia Inguinal hernia Short stature Abnormality of the skeletal system Pectus excavatum Talipes equinovarus Strabismus Abnormal heart morphology Abnormal cardiac septum morphology Facial asymmetry Proptosis Joint hyperflexibility High forehead Hydronephrosis Micrognathia Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Total colonic aganglionosis Increased size of the mandible Volvulus Arthropathy Multiple lipomas Heterochromia iridis White forelock Camptodactyly Flexion contracture Deeply set eye Joint laxity Broad forehead Coarctation of aorta Thin skin Abnormality of the genital system Dental crowding Pointed chin Finger clinodactyly Short chin Cutis marmorata Long nose Spastic diplegia Nevus Soft skin Platybasia Truncus arteriosus Abnormal eyelid morphology Varicose veins Atelectasis Chronic obstructive pulmonary disease Abnormality of the uterus Corneal neovascularization Tetany Hypoplasia of the thymus Seborrheic dermatitis Abnormal thrombocyte morphology Abnormal aortic valve morphology Abnormality of the pharynx Small earlobe Arrhinencephaly Intestinal obstruction Abnormality of the tonsils Pyloric stenosis Abdominal distention Smooth philtrum Vomiting Peripheral neuropathy Occipital myelomeningocele Tricuspid atresia Impaired T cell function Multiple suture craniosynostosis Abnormal aortic arch morphology Hypertensive crisis Retinal arteriolar tortuosity Anorectal anomaly Abnormal pulmonary valve morphology Narrow nose Abnormality of the pinna Narrow maxilla Visual loss Rheumatoid arthritis Colitis Ulcerative colitis Juvenile rheumatoid arthritis Hypoplasia of penis Recurrent urinary tract infections Abnormality of the ureter Epispadias Bladder exstrophy Abnormality of the anus Abnormality of the clitoris High palate Depressed nasal bridge Respiratory distress Finger syndactyly Hypsarrhythmia Toe syndactyly Small hand Short foot Limitation of joint mobility Broad thumb Arnold-Chiari malformation Increased intracranial pressure Atresia of the external auditory canal Tracheomalacia Short hallux Broad hallux phalanx Aqueductal stenosis Cloverleaf skull Hallux varus Systemic lupus erythematosus Intellectual disability, profound Macrocephaly Fused cervical vertebrae Abnormality of the skull Microtia Cleft upper lip Webbed neck Otitis media Low posterior hairline Abnormality of the genitourinary system Relative macrocephaly Unilateral renal agenesis Rocker bottom foot Mixed hearing impairment Vertebral fusion Sprengel anomaly External ear malformation Stiff neck Spastic tetraplegia Mild conductive hearing impairment Epileptic encephalopathy Brain atrophy Tetraplegia Absent speech Cervicomedullary schisis Limited neck range of motion Decreased cervical spine mobility Bimanual synkinesia Abnormality of limb bone morphology Moderate hearing impairment Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Congenital muscular torticollis Posterior fossa cyst Meningocele Abnormal lung lobation Multiple renal cysts Abnormality of the pubic bone Abnormal cortical bone morphology Small face Craniofacial hyperostosis Complete atrioventricular canal defect Sclerosis of skull base Tricuspid valve prolapse Ureteral stenosis Prune belly Long neck Urethral atresia Megacystis Hypoplastic facial bones Frontal hirsutism Anisospondyly Osteolytic defects of the phalanges of the hand Ureteral obstruction Obtuse angle of mandible Anterior concavity of thoracic vertebrae Pulmonic stenosis Narrow chest Hip dislocation Microcephaly Muscular hypotonia Cataract Cryptorchidism Ptosis Respiratory tract infection Epicanthus Wide nasal bridge Hypoplastic pelvis Hypoplastic scapulae Pes planus Coxa valga Delayed eruption of teeth Growth hormone deficiency Short distal phalanx of finger Mitral valve prolapse Oligohydramnios Pulmonary arterial hypertension Genu valgum Osteoarthritis Recurrent otitis media Abnormality of the metaphysis Bowing of the long bones Wide anterior fontanel Hoarse voice Coarse hair Misalignment of teeth Prominent supraorbital ridges Melanocytic nevus Flared metaphysis Ectopic kidney Thoracic hypoplasia Delayed cranial suture closure Short thorax Long fingers Limited elbow extension Tibial bowing Atrioventricular canal defect Short humerus Short clavicles Cone-shaped epiphyses of the phalanges of the hand Optic atrophy Skeletal dysplasia Patellar dislocation Polycystic kidney dysplasia Asthma Gastrointestinal hemorrhage Specific learning disability Gait disturbance Hypertension Spina bifida Hypocalcemia Abnormality of dental enamel Purpura Hypopigmented skin patches Schizophrenia Motor delay Nasal speech Cholelithiasis Long face Hand polydactyly Abnormality of the thorax Overfolded helix Chronic otitis media Acne Dysphasia Pain Hyperthyroidism Foot polydactyly Posterior embryotoxon Full cheeks Bipolar affective disorder Turricephaly Hypoparathyroidism Bulbous nose Frontal bossing Retrognathia Recurrent respiratory infections Kyphoscoliosis Abnormality of the dentition Behavioral abnormality Intellectual disability, mild Splenomegaly Long philtrum Immunodeficiency Microphthalmia Macrotia Obesity Depressivity Hypospadias Prominent forehead Pneumonia Prominent nasal bridge Upslanted palpebral fissure Glaucoma Autism Narrow mouth Hypothyroidism Polyhydramnios Gastroesophageal reflux Myalgia Anxiety Telecanthus Respiratory insufficiency Autoimmunity Attention deficit hyperactivity disorder Short philtrum Deviation of the thumb



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