Arthritis, and Narrow mouth

Diseases related with Arthritis and Narrow mouth

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


Top matches:

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


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

Medium match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Medium match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

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Other less relevant matches:

Medium match DIGEORGE SYNDROME; DGS


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

Medium 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

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match FLOATING-HARBOR SYNDROME


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

Low 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 ORAL SUBMUCOUS FIBROSIS


Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.

ORAL SUBMUCOUS FIBROSIS Is also known as osmf

Related symptoms:

  • Flexion contracture
  • Narrow mouth
  • Trismus
  • Cheilitis
  • Abnormality of the pharynx


SOURCES: MESH ORPHANET MENDELIAN

More info about ORAL SUBMUCOUS FIBROSIS

Top 5 symptoms//phenotypes associated to Arthritis and Narrow mouth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Nasal speech Microcephaly Hypertelorism Short neck Seizures Telecanthus Epicanthus Flexion contracture Ptosis Cryptorchidism Growth delay Inguinal hernia Intrauterine growth retardation Postnatal growth retardation Hypothyroidism Abnormality of the dentition Joint hyperflexibility Rheumatoid arthritis Umbilical hernia Abnormality of cardiovascular system morphology Hypertension Muscular hypotonia Dilatation Obesity Short philtrum Macrocephaly Talipes equinovarus Kyphoscoliosis Glaucoma Generalized hypotonia Failure to thrive High palate Smooth philtrum Cognitive impairment Abnormality of the skeletal system Broad thumb Osteoarthritis Cardiomyopathy Joint stiffness Joint laxity Proptosis Sensorineural hearing impairment Immunodeficiency Hypermetropia Kyphosis Hydrocephalus Neurological speech impairment Prominent nasal bridge Low-set ears Bulbous nose Thrombocytopenia Recurrent infections Microphthalmia Behavioral abnormality Atrial septal defect Ventricular septal defect Neoplasm Wide mouth Aplasia/Hypoplasia of the earlobes High, narrow palate Thin vermilion border Cataract Gastroesophageal reflux Conductive hearing impairment Carious teeth Feeding difficulties in infancy Hypospadias Convex nasal ridge Mandibular prognathia Hip dislocation Prominent forehead Flat face Short nose Hypertonia Deeply set eye Wide nasal bridge Motor delay Small for gestational age

Rare Symptoms - Less than 30% cases


Astigmatism Cleft palate Delayed speech and language development Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Blepharophimosis Microtia Patent ductus arteriosus Attention deficit hyperactivity disorder Abnormal heart morphology Posteriorly rotated ears Clinodactyly of the 5th finger Retrognathia Hydronephrosis Craniosynostosis Autoimmunity Myopia Intellectual disability, moderate Brachydactyly Alopecia of scalp Microdontia Mitral valve prolapse Thin skin Gingival overgrowth Osteolysis Narrow nasal bridge Scleroderma Sprengel anomaly Transient ischemic attack Specific learning disability Gingivitis Varicose veins Osteolytic defects of the phalanges of the hand Celiac disease Long eyelashes Otitis media Prominent nose Hypoplasia of the maxilla Small hand Iris coloboma Short palpebral fissure Tetralogy of Fallot Abnormality of the thorax Intellectual disability, mild Constipation Upslanted palpebral fissure Long philtrum Anxiety Arachnodactyly Enlarged joints Laryngomalacia Short clavicles Optic atrophy Abnormality of the pharynx High pitched voice Intracranial hemorrhage Fever Macrotia Stroke Delayed puberty Growth hormone deficiency Downslanted palpebral fissures Impaired T cell function Coarctation of aorta Cholelithiasis Low posterior hairline Abnormality of skin pigmentation Exotropia Spina bifida Hypocalcemia Purpura Triangular face Schizophrenia Acne Hypoplasia of the thymus Posterior embryotoxon Bipolar affective disorder Hypoparathyroidism Meningocele Hyperactivity Truncus arteriosus Diabetes mellitus Tetany Seborrheic dermatitis Joint hypermobility Thin upper lip vermilion Joint dislocation Short metatarsal Osteoporosis Short metacarpal Nail dysplasia Narrow chest Trismus Generalized osteoporosis Osteopenia Depressed nasal bridge Clinodactyly Metaphyseal widening Edema Abnormality of the hand Pectus excavatum Coxa valga Pain Pes planus Protruding ear Sandal gap Midface retrusion Alopecia Respiratory distress Abnormality of the kidney Reticulated skin pigmentation Mitral valve calcification Craniofacial disproportion Hypoplastic facial bones Prominent scalp veins Bird-like facies Old-aged sensorineural hearing impairment Posterior subcapsular cataract Parietal bossing Widely patent fontanelles and sutures Hiatus hernia Intermittent claudication Iris atrophy Narrow nasal tip Thick hair Corneal arcus Sinus tachycardia Microglossia Decreased testosterone in males Premature coronary artery atherosclerosis Tapetoretinal degeneration Thin nail Bilateral coxa valga Tapering pointed ends of distal finger phalanges Carotid artery stenosis Abnormality of the hip bone Polyneuropathy Constriction of peripheral visual field Peripheral axonal neuropathy Dysmetria Abnormality of dental morphology Abnormality of eye movement Cat cry Bull's eye maculopathy Cerebral hemorrhage Macrodontia Abnormality of the nervous system Disproportionate tall stature Truncal obesity Weak cry Absence of pubertal development Pneumonia Subcapsular cataract Areflexia Thoracic scoliosis Arrhythmia Renal insufficiency Peripheral neuropathy Ataxia Arteriosclerosis of small cerebral arteries Regional abnormality of skin Peripheral visual field loss Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Vocal cord paralysis Narrow philtrum Slender toe Hypogonadotrophic hypogonadism Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Dermal atrophy Relative macrocephaly Hypercholesterolemia Acanthosis nigricans Hyperlipidemia Cheilitis Atherosclerosis Bone spicule pigmentation of the retina Macular edema Aminoaciduria Hypergonadotropic hypogonadism Multiple joint contractures Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Abnormal oral cavity morphology Hypohidrosis Dental crowding Left ventricular hypertrophy Decreased body weight Broad-based gait Hypertriglyceridemia Myocardial infarction Furrowed tongue Heart murmur Abnormality of the larynx Absence of subcutaneous fat Prominent superficial veins Facial hypotonia Hip pain Aplastic clavicle Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Recurrent aphthous stomatitis Precocious atherosclerosis Misalignment of teeth Small face Lack of skin elasticity Angina pectoris Ovoid vertebral bodies Premature graying of hair Hyperphosphatemia Down-sloping shoulders Fragile nails Absent eyelashes Abnormal EKG Thrombocytosis Deep venous thrombosis Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Lipoatrophy Exertional dyspnea Prolonged QT interval Narrow nasal ridge Hypotelorism Cubitus valgus Enuresis Expressive language delay Short upper lip Spinal dysraphism Synophrys Stiff neck Congenital neutropenia Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia Granulocytopenia 11 pairs of ribs Cardiomegaly Short attention span Hyperplasia of the maxilla Genu valgum Abnormality of the clavicle Thick corpus callosum Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Proportionate short stature Retinal degeneration Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Abnormality of the voice Varicocele Persistent left superior vena cava Nephrocalcinosis Visual loss Narrow palm Chorioretinal dysplasia Finger syndactyly High-pitched cry Nyctalopia Retinopathy Paralysis Hemeralopia Respiratory tract infection Neonatal hypotonia Reduced visual acuity Rod-cone dystrophy Cutis gyrata of scalp Cerebellar hypoplasia Hernia Pseudoarthrosis Chorioretinal dystrophy Blindness Visual impairment Nystagmus Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Laryngeal stenosis Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Abnormality of the fingernails Finger clinodactyly Failure to thrive in infancy Abnormality of skeletal muscles Childhood-onset truncal obesity Hypoplastic philtrum High myopia Lumbar hyperlordosis Open mouth Clumsiness Tall stature Hyperreflexia Uric acid nephrolithiasis Abnormality of retinal pigmentation Progressive microcephaly Preauricular skin tag Low anterior hairline Intellectual disability, progressive Leukopenia Narrow forehead Venous thrombosis Excessive purine production Recurrent skin infections Increased urinary hypoxanthine Hyperuricosuria Abnormal aortic morphology High-frequency hearing impairment Reduced number of teeth Gout Precocious puberty Arnold-Chiari type I malformation Hyperuricemia Severe global developmental delay Radioulnar synostosis Decreased fetal movement Pigmentary retinopathy Generalized hirsutism Malabsorption Short thumb Thick eyebrow Recurrent otitis media Interphalangeal joint contracture of finger Apraxia Hypoplasia of penis Retinal dystrophy Thick vermilion border Broad nasal tip Retinal detachment Highly arched eyebrow Downturned corners of mouth Hirsutism Poor speech Camptodactyly of finger Dysarthria Tapered finger Aggressive behavior Single transverse palmar crease Babinski sign Neutropenia Delayed skeletal maturation Headache Vomiting Prominent eyelashes Microcornea Macrodontia of permanent maxillary central incisor Gait disturbance Aciduria Progressive visual loss Villous atrophy Parathyroid agenesis Abnormality of the cardiovascular system Premature birth Redundant skin Hypokalemia Abnormality of the urinary system Tinnitus Sleep apnea Abnormal intestine morphology Short chin Congenital hip dislocation Cardiac arrest Telangiectasia Subcutaneous nodule Abnormality of the face Blue sclerae Migraine Abnormal bleeding Melanocytic nevus Bruising susceptibility Vertigo Respiratory insufficiency Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Proximal fibular overgrowth Multiple carpal ossification centers Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Aortic aneurysm Aplasia/Hypoplasia of the eyebrow Multiple joint dislocation Hematochezia Gastrointestinal infarctions Dermal translucency Ascending tubular aorta aneurysm Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Pneumothorax Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Reduced consciousness/confusion Abnormally large globe Macule Hemoptysis Telangiectasia of the skin Abnormal heart valve morphology Fragile skin Abnormal joint morphology Keratoconus Prematurely aged appearance Esophageal atresia Periodontitis Premature loss of teeth Dilatation of the cerebral artery Subarachnoid hemorrhage Abnormal eyelash morphology Narrow nose Aortic dissection Large joint dislocations Advanced ossification of carpal bones Abnormality of the gingiva Hip contracture Severe short stature Anteverted nares Chin with H-shaped crease Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Breech presentation Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Mask-like facies High forehead Intellectual disability, profound Muscle weakness Myopathy Cerebellar atrophy Camptodactyly Arthrogryposis multiplex congenita Talipes Joint contracture of the hand Rocker bottom foot Knee flexion contracture Spina bifida occulta Adducted thumb Pterygium Congenital contracture Hypoplasia of the brainstem Respiratory failure Skeletal dysplasia Long upper lip Short femoral neck Vertebral clefting Hypoplastic vertebral bodies Flattened epiphysis Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Short 1st metacarpal Generalized joint laxity Flat acetabular roof Irregular vertebral endplates Protuberant abdomen Cystic hygroma Congenital glaucoma Thoracic hypoplasia Genu varum Hyperlordosis Waddling gait Platyspondyly Micromelia Short distal phalanx of finger Renal cyst Abdominal distention Round face Wide intermamillary distance Disproportionate short-limb short stature Depressed nasal ridge Bowing of the long bones Rhizomelia Horseshoe kidney Coxa vara Microretrognathia Abnormal oral frenulum morphology Colonic diverticula Cyanosis Abnormality of dental enamel Abnormality of the skull Multiple renal cysts Patellar dislocation Turricephaly Abnormal lung lobation Foot polydactyly Hyperthyroidism Bowel incontinence Dysphasia Chronic otitis media Overfolded helix Hand polydactyly Polycystic kidney dysplasia Hypopigmented skin patches Aganglionic megacolon Atelectasis Choanal atresia Renal hypoplasia Gastrointestinal hemorrhage Intestinal malrotation Vesicoureteral reflux Asthma Long face Anal atresia Myalgia Polyhydramnios Autism Depressivity Splenomegaly Type I truncus arteriosus Abnormal eyelid morphology Chronic obstructive pulmonary disease Decreased circulating parathyroid hormone level Congestive heart failure Limitation of joint mobility Chest pain Hypodontia Delayed eruption of teeth Hepatic steatosis Infertility Hypotrichosis Dilated cardiomyopathy Sparse hair Hypertrophic cardiomyopathy Carcinoma Dyspnea Hypogonadism Dementia Skeletal muscle atrophy Abnormality of the uterus Abnormal pulmonary valve morphology Corneal neovascularization Abnormal thrombocyte morphology Abnormal aortic valve morphology Small earlobe Platybasia Arrhinencephaly Anorectal anomaly Occipital myelomeningocele Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Abnormality of the tonsils Parathyroid hypoplasia Sacral meningocele Internal hemorrhage Arteriovenous fistulas of celiac and mesenteric vessels Chorea Bifid uvula Hemolytic anemia Polymicrogyria Generalized tonic-clonic seizures Abnormality of the pinna Cleft lip Hypoplasia of the corpus callosum Anemia Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Uterine prolapse Amenorrhea Normal pressure hydrocephalus Arterial dissection Cigarette-paper scars Arteriovenous fistula Absent earlobe Renovascular hypertension Peripheral arteriovenous fistula Pulmonary artery aneurysm Uterine rupture Gingival recession Coronary artery aneurysm Molluscoid pseudotumors Spontaneous pneumothorax Foot acroosteolysis Arterial rupture Renal agenesis Primary amenorrhea Accommodative esotropia Perimembranous ventricular septal defect Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Right aortic arch Alcoholism Femoral hernia Interrupted aortic arch Renal dysplasia Autoimmune hemolytic anemia Amblyopia Bicuspid aortic valve Arnold-Chiari malformation Psoriasiform dermatitis Unilateral renal agenesis Inflammation of the large intestine Autoimmune thrombocytopenia Graves disease Vitiligo Sclerocornea Myelomeningocele Juvenile rheumatoid arthritis Anterior segment developmental abnormality Aplasia of the uterus Oropharyngeal squamous cell carcinoma



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