Cryptorchidism, and Rheumatoid arthritis

Diseases related with Cryptorchidism and Rheumatoid arthritis

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

Top matches:

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

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

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

Other less relevant matches:

Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Low match KID SYNDROME

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

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

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Rheumatoid arthritis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cryptorchidism and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Hearing impairment Seizures Growth delay Abnormal facial shape Inguinal hernia Joint hyperflexibility Intrauterine growth retardation Hypertension Pain Global developmental delay Kyphoscoliosis Mandibular prognathia Abnormality of the skeletal system Ptosis Microcephaly Delayed speech and language development Mitral valve prolapse Dilatation Hypothyroidism Epicanthus Diabetes mellitus Clinodactyly of the 5th finger Obesity Depressed nasal bridge Strabismus Hypospadias High palate Flexion contracture Cognitive impairment Macrocephaly Scoliosis Abnormality of cardiovascular system morphology Underdeveloped nasal alae Abnormality of the dentition Postnatal growth retardation Joint stiffness Hip dislocation Hypoplasia of the maxilla Small for gestational age Hyperactivity Malar flattening Short neck Small hand Talipes equinovarus Deeply set eye Telecanthus

Rare Symptoms - Less than 30% cases

Failure to thrive Hyperreflexia Low posterior hairline Dysarthria Narrow nasal bridge Macule Malabsorption Aplasia/Hypoplasia of the eyebrow Arthralgia Celiac disease Furrowed tongue Anemia Thoracic scoliosis Nephrocalcinosis Alopecia of scalp Gastrointestinal infarctions Abnormality of the clavicle Camptodactyly of finger Stiff neck Hyperextensible skin Aplasia/Hypoplasia of the earlobes Sprengel anomaly Prominent nose Scarring Abnormal eyelash morphology Interphalangeal joint contracture of finger Generalized hypotonia Short metacarpal Sensorineural hearing impairment Thin upper lip vermilion Otitis media Progressive visual loss Clumsiness Smooth philtrum Long eyelashes Severe global developmental delay Neurological speech impairment Prominent nasal bridge Short philtrum Wide mouth Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Aggressive behavior Pes planus Muscular hypotonia Kyphosis Visual impairment Gait disturbance Constipation Headache Blindness Behavioral abnormality Short metatarsal Anxiety Cerebellar atrophy Hernia Visual loss Cerebellar hypoplasia Gastroesophageal reflux Macrotia Redundant skin Gingivitis Alopecia Hip contracture Glaucoma Nasal speech Narrow mouth Fever Oral leukoplakia Wide nasal bridge High, narrow palate Bruising susceptibility Arthrogryposis multiplex congenita Protruding ear Erythema Talipes Joint hypermobility Thin vermilion border Flat face Dental malocclusion Abnormality of the skin Abnormality of skin pigmentation Knee flexion contracture Short phalanx of finger Carious teeth Umbilical hernia Abnormal heart morphology Short nose Joint dislocation Midface retrusion Microdontia Osteolysis Respiratory insufficiency Gingival overgrowth Cone-shaped epiphyses of the phalanges of the hand Pectus excavatum Brachydactyly Skeletal dysplasia Asthma Neoplasm Blue sclerae Delayed skeletal maturation Rigidity Depressivity Severe hearing impairment Dementia Weight loss Corneal neovascularization Keratoconjunctivitis sicca Corneal erosion Myoclonus Dystrophic toenail Hypoplastic fingernail Dystrophic fingernails Gait ataxia Cellulitis Cough Squamous cell carcinoma Abnormal cerebellum morphology Reduced tendon reflexes Type II diabetes mellitus Generalized-onset seizure Bradykinesia Urticaria Neuronal loss in central nervous system Scaling skin Brain atrophy Chorea Gliosis Progressive cerebellar ataxia Neurodegeneration Hemiplegia/hemiparesis Falls Abnormality of movement Congenital sensorineural hearing impairment Infertility Keratitis Abnormality of eye movement Abnormality of the cerebral white matter Recurrent corneal erosions Irritability Mental deterioration Absent eyebrow Hypoplastic toenails Dystonia Recurrent respiratory infections Ventriculomegaly Abnormality of epiphysis morphology Ulnar deviation of finger Short finger Proximal placement of thumb Overfolded helix Elbow dislocation Short long bone Disproportionate short-limb short stature Abnormality of the metacarpal bones Trichiasis Abnormality of the outer ear Hoarse voice Increased bone mineral density Bowing of the long bones Spinal cord compression Abnormal form of the vertebral bodies Abnormality of corneal stroma Abnormality of the metaphysis Cleft palate Abnormality of the ribs Limb undergrowth Cerebral calcification Hip dysplasia Full cheeks Micromelia Abnormality of the foot Low-set, posteriorly rotated ears Pneumonia Overweight Thoracic dysplasia Abnormality of the tongue Laryngotracheal stenosis Dysphagia Squamous cell carcinoma of the skin Keratoconjunctivitis Tremor Corneal scarring Recurrent bacterial skin infections Severe short stature Generalized hyperkeratosis Ataxia Corneal ulceration Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Glabellar hemangioma Large earlobe Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Moderate hearing impairment Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Ulnar deviation of the hand Lethal skeletal dysplasia Irregular epiphyses Symphalangism affecting the phalanges of the hand Abnormal soft palate morphology Oral motor hypotonia Progressive neurologic deterioration Hypermetropia Generalized hirsutism Short thumb Broad thumb Recurrent otitis media Short palpebral fissure Apraxia Coarctation of aorta Hypoplasia of penis Broad nasal tip Triangular face Downturned corners of mouth Hirsutism Bulbous nose Poor speech Craniosynostosis Abnormality of the fingernails Atrial septal defect Renal amyloidosis Azotemia Serositis Recurrent meningitis Orchitis Low-set ears Vomiting Hydronephrosis Intellectual disability, mild Clinodactyly Babinski sign Posteriorly rotated ears Upslanted palpebral fissure Conductive hearing impairment Finger clinodactyly Abnormality of the hand Congenital hypoplastic anemia Persistent left superior vena cava Broad columella Tethered cord Spinal dysraphism Short upper lip Expressive language delay Varicocele Pseudoarthrosis Speech apraxia Congenital pseudoarthrosis of the clavicle Congenital posterior urethral valve Epididymal cyst Enlarged naris Curved fingers Broad fingertip Hyperextensibility of the finger joints Enlarged joints Abnormality of the voice High pitched voice Trigonocephaly Language impairment Generalized cerebral atrophy/hypoplasia Clubbing Impulsivity Preauricular pit Proportionate short stature 11 pairs of ribs Short clavicles Lipoma Short columella Short attention span Enuresis Villous atrophy Erysipelas Pleuritis Broad-based gait Hepatomegaly Paranoia Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Diarrhea Dilated fourth ventricle Splenomegaly Renal insufficiency Arrhythmia Sparse eyelashes Abdominal pain Acidosis Testicular atrophy Chronic bronchitis Myalgia Obsessive-compulsive behavior Involuntary movements Schizophrenia Hyperkinesis Incoordination Slurred speech Personality changes Akinesia Head tremor Hypokinesia Muscle fibrillation Bronchitis Cerebellar vermis atrophy Restlessness Upper limb undergrowth Hepatosplenomegaly Proteinuria Synovitis Increased serum ferritin Leukocytosis Hyperkalemia Elevated erythrocyte sedimentation rate Amyloidosis Pericarditis Episodic fever Gout Intestinal obstruction Antinuclear antibody positivity Edema of the lower limbs Acute hepatic failure Anemia of inadequate production Peritonitis Decreased circulating aldosterone level Inflammation of the large intestine Systemic lupus erythematosus Abnormality of the kidney Ascites Skin rash Nausea and vomiting Lymphadenopathy Stage 5 chronic kidney disease Nausea Nephropathy Chest pain Chronic kidney disease Nephrotic syndrome Myocardial infarction Meningitis Vasculitis Purpura Pancreatitis Neoplasm of the skin Macrodontia of permanent maxillary central incisor Conjunctivitis Abnormal oral frenulum morphology Coronary artery aneurysm Gingival recession Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Renovascular hypertension Absent earlobe Arteriovenous fistula Cigarette-paper scars Arterial dissection Internal hemorrhage Colonic diverticula Abnormality of the gingiva Dermal translucency Spontaneous pneumothorax 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 Osteolytic defects of the phalanges of the hand Varicose veins Molluscoid pseudotumors Foot acroosteolysis Abnormally large globe Respiratory distress Stroke Nyctalopia Retinopathy Paralysis Respiratory tract infection Neonatal hypotonia Retrognathia Reduced visual acuity Rod-cone dystrophy Thrombocytopenia Recurrent infections Microphthalmia Edema Cardiomyopathy Ventricular septal defect Arterial rupture Downslanted palpebral fissures Optic atrophy Myopia Motor delay Cataract Nystagmus Hypermobility of distal interphalangeal joints Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Hematochezia Periodontitis Synophrys Mask-like facies 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 Trismus Malignant hyperthermia Distal arthrogryposis Atrophy/Degeneration affecting the brainstem Rocker bottom foot Proptosis Hypoplasia of the brainstem Congenital contracture Pterygium Adducted thumb Spina bifida occulta Joint contracture of the hand Intellectual disability, profound Blepharophimosis Camptodactyly Prominent forehead Long philtrum Hypertonia Myopathy Muscle weakness Hydrocephalus Vertigo Aortic dissection Melanocytic nevus Transient ischemic attack Narrow nose Subarachnoid hemorrhage Dilatation of the cerebral artery Premature loss of teeth Esophageal atresia Hemoptysis Prematurely aged appearance Keratoconus Scleroderma Abnormal joint morphology Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Aortic aneurysm Abnormal bleeding 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 Thin skin Migraine Premature birth Finger syndactyly Delayed puberty Elbow flexion contracture Osteopenia Ventral hernia Shoulder dislocation Squared iliac bones Knee dislocation Thin eyebrow Abnormality of the vasculature Atrophic scars Hallux valgus Bilateral ptosis Cutis laxa Narrow palate Webbed neck Papule Osteoporosis Anteverted nares Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Bursitis Autism Congenital neutropenia Hyperkeratosis Skin ulcer Sparse and thin eyebrow Hypohidrosis Thickened skin Aganglionic megacolon Fine hair Nail dysplasia Delayed eruption of teeth Palmoplantar keratoderma Ichthyosis Nail dystrophy Sparse hair Carcinoma Photophobia Hyperhidrosis Round face Pes cavus Chronic rhinitis Red hair Fair hair Blue irides Rhinitis Spinal canal stenosis Congenital hypothyroidism Mild short stature Cone-shaped epiphysis Increased intracranial pressure Accelerated skeletal maturation Type I diabetes mellitus Eczema Hyperplasia of the maxilla Granulocytopenia Genu valgum Convex nasal ridge Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Exotropia Tall stature Open mouth Lumbar hyperlordosis High myopia Decreased fetal movement Narrow forehead Pigmentary retinopathy Aciduria Venous thrombosis Growth hormone deficiency Microcornea Neutropenia Single transverse palmar crease Tapered finger Highly arched eyebrow Retinal detachment Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Retinal degeneration Arachnodactyly Astigmatism Leukopenia Recurrent skin infections Bull's eye maculopathy Hiatus hernia Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Deep venous thrombosis Misalignment of teeth Facial hypotonia Vocal cord paralysis Microglossia Posterior subcapsular cataract Peripheral visual field loss Laryngomalacia Subcapsular cataract Weak cry Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Constriction of peripheral visual field Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Reduced number of teeth Mesocardia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Camptodactyly, related diseases and genetic alterations Delayed speech and language development and Peripheral axonal neuropathy, related diseases and genetic alterations Tremor and Hirsutism, related diseases and genetic alterations Skeletal muscle atrophy and Difficulty walking, related diseases and genetic alterations