Cryptorchidism, and Osteoarthritis

Diseases related with Cryptorchidism and Osteoarthritis

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


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

Medium match PERIPHERAL DYSOSTOSIS


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

Medium match DIASTROPHIC DWARFISM


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

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Other less relevant matches:

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

Medium match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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

Low 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

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 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 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Osteoarthritis

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Joint hyperflexibility Strabismus Ptosis Seizures Abnormal facial shape Mandibular prognathia Scoliosis Intrauterine growth retardation Growth delay Abnormality of the dentition Malar flattening Abnormality of cardiovascular system morphology Joint stiffness Kyphoscoliosis Obesity Talipes equinovarus Feeding difficulties in infancy Hypospadias Failure to thrive Abnormality of the skeletal system Short neck Hypothyroidism Glaucoma Hip dislocation Gastroesophageal reflux Umbilical hernia Deeply set eye Telecanthus Microcephaly Carious teeth Epicanthus Nasal speech Underdeveloped nasal alae Muscular hypotonia Gingivitis Pain Flexion contracture Macrocephaly Respiratory insufficiency Kyphosis Camptodactyly of finger Rheumatoid arthritis Joint hypermobility Protruding ear Narrow mouth Dilatation Cognitive impairment Short philtrum Hypoplasia of the maxilla Prominent nasal bridge Small hand Upslanted palpebral fissure Long philtrum Behavioral abnormality Postnatal growth retardation Blindness Small for gestational age Visual impairment Cataract Depressed nasal bridge Hypertension Microphthalmia Clinodactyly of the 5th finger Intellectual disability, moderate Constipation Generalized hypotonia Mitral valve prolapse Thin upper lip vermilion Anxiety High palate Wide nasal bridge Thrombocytopenia

Rare Symptoms - Less than 30% cases


Depressivity Abnormality of the skin Hypokalemia Long eyelashes Ventricular septal defect Atelectasis Osteolysis Bulbous nose Gingival overgrowth Subcutaneous nodule Chorioretinal dysplasia Microdontia Otitis media Downslanted palpebral fissures Abnormality of skin pigmentation Prominent nose Reduced visual acuity Abnormal bleeding Neonatal hypotonia Thin vermilion border Pectus excavatum Alopecia High, narrow palate Flat face Hydrocephalus Multiple renal cysts Aplasia/Hypoplasia of the eyebrow Open mouth Reduced number of teeth Neoplasm of the skin Abnormality of dental enamel Aggressive behavior Joint contracture of the hand Skin ulcer Fine hair Abnormal pupil morphology Laryngomalacia Malabsorption Delayed puberty Aciduria Delayed eruption of teeth Long face Abnormality of the voice Aplasia/Hypoplasia of the earlobes Macule Dysphasia Narrow nasal bridge Patellar dislocation Genu valgum Abnormal joint morphology Sprengel anomaly Alopecia of scalp Abnormal eyelash morphology Chronic otitis media Celiac disease Attention deficit hyperactivity disorder Motor delay Periodontitis Nystagmus Varicose veins Arachnodactyly Nephrocalcinosis Smooth philtrum Optic atrophy Arthrogryposis multiplex congenita Corneal neovascularization Dental malocclusion Abnormality of the metaphysis Blue sclerae Interphalangeal joint contracture of finger Abnormality of the ribs Progressive visual loss Aganglionic megacolon Furrowed tongue Full cheeks Delayed speech and language development Talipes Brachydactyly Short nose Low-set ears Midface retrusion Diabetes mellitus Hyperactivity Autism Low-set, posteriorly rotated ears Skeletal dysplasia Asthma Knee flexion contracture Recurrent respiratory infections Abnormal heart morphology Cleft palate Short metacarpal Short phalanx of finger Cone-shaped epiphyses of the phalanges of the hand Thoracic scoliosis Short metatarsal Sensorineural hearing impairment Visual loss Hip contracture Neurological speech impairment Cerebellar hypoplasia Abnormality of the clavicle Bruising susceptibility Delayed skeletal maturation Neoplasm Narrow palate Hernia Conductive hearing impairment Scarring Joint laxity Macrotia Pes planus Wide mouth Low posterior hairline Abnormality of epiphysis morphology Intellectual disability, mild Hyperextensible skin Atrial septal defect Redundant skin Overfolded helix Severe global developmental delay Joint dislocation Congenital contracture Pseudoarthrosis Congenital pseudoarthrosis of the clavicle Hypoplasia of the brainstem Tethered cord Pterygium Stiff neck Spinal dysraphism Short upper lip Expressive language delay Varicocele Persistent left superior vena cava Congenital posterior urethral valve Mesocardia Adducted thumb Broad fingertip Prominent forehead Blepharophimosis Hypertonia Generalized cerebral atrophy/hypoplasia Intellectual disability, profound Rocker bottom foot Cerebellar atrophy Epididymal cyst Myopathy Spina bifida occulta Camptodactyly Fever Curved fingers Enlarged naris Abnormal soft palate morphology Hypermetropia Broad columella Hyperreflexia Whistling appearance Finger clinodactyly Generalized hirsutism Short thumb Broad thumb Recurrent otitis media Short palpebral fissure Chin with H-shaped crease Apraxia Coarctation of aorta Hypoplasia of penis Dysarthria Ulnar deviation of the hand or of fingers of the hand Gait disturbance Vomiting Broad nasal tip Headache Clinodactyly Babinski sign Triangular face Posteriorly rotated ears Hydronephrosis Downturned corners of mouth Hirsutism Craniosynostosis Shoulder flexion contracture Abnormality of the fingernails Mask-like facies Dimple chin Hyperextensibility of the finger joints Atrophy/Degeneration affecting the brainstem Speech apraxia Distal arthrogryposis Enlarged joints 11 pairs of ribs Malignant hyperthermia Villous atrophy Enuresis Short attention span Trismus Breech presentation Overbite Abnormality of the hand Poor speech Lipoma Short clavicles Proportionate short stature Flexion contracture of toe High pitched voice Abnormal auditory evoked potentials Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Short columella Small earlobe Splenomegaly Radioulnar synostosis Intellectual disability, progressive Sandal gap Leukopenia Venous thrombosis Recurrent skin infections Precocious puberty Intracranial hemorrhage Preauricular skin tag Failure to thrive in infancy Cubitus valgus Constriction of peripheral visual field Abnormality of dental morphology Cerebral hemorrhage Disproportionate tall stature Low anterior hairline Progressive microcephaly Abnormality of the hip bone Convex nasal ridge Highly arched eyebrow Tapered finger Single transverse palmar crease Neutropenia Microcornea Growth hormone deficiency Pigmentary retinopathy Abnormality of retinal pigmentation Narrow forehead Decreased fetal movement High myopia Lumbar hyperlordosis Clumsiness Tall stature Exotropia Truncal obesity Weak cry Thick vermilion border Narrow philtrum Hyperplasia of the maxilla Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Hemeralopia Narrow palm High-pitched cry Granulocytopenia Thick corpus callosum Prominent eyelashes Macrodontia of permanent maxillary central incisor Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Congenital neutropenia Bull's eye maculopathy Subcapsular cataract Misalignment of teeth Peripheral visual field loss Hiatus hernia Posterior subcapsular cataract Microglossia Vocal cord paralysis Facial hypotonia Deep venous thrombosis Macrodontia Macular edema Bone spicule pigmentation of the retina Abnormality of the larynx Recurrent aphthous stomatitis Tapetoretinal degeneration Thick hair Iris atrophy Retinal detachment Retinal dystrophy Immunodeficiency Posterior embryotoxon Hand polydactyly Abnormality of the thorax Acne Bowel incontinence Hyperthyroidism Foot polydactyly Abnormal lung lobation Polycystic kidney dysplasia Bipolar affective disorder Turricephaly Hypoparathyroidism Abnormality of the skull Meningocele Truncus arteriosus Cholelithiasis Schizophrenia Chronic obstructive pulmonary disease Intestinal malrotation Patent ductus arteriosus Polyhydramnios Myalgia Autoimmunity Anal atresia Vesicoureteral reflux Gastrointestinal hemorrhage Hypopigmented skin patches Specific learning disability Tetralogy of Fallot Renal hypoplasia Choanal atresia Spina bifida Hypocalcemia Purpura Abnormal eyelid morphology Abnormality of the uterus Iris coloboma Paralysis Cardiomyopathy Edema Recurrent infections Rod-cone dystrophy Retrognathia Respiratory tract infection Retinopathy Myopia Nyctalopia Stroke Finger syndactyly Synophrys Astigmatism Retinal degeneration Thick eyebrow Respiratory distress Occipital myelomeningocele Tetany Arrhinencephaly Hypoplasia of the thymus Seborrheic dermatitis Abnormal thrombocyte morphology Abnormal aortic valve morphology Abnormality of the pharynx Platybasia Impaired T cell function Abnormality of the tonsils Abnormal pulmonary valve morphology Anorectal anomaly Retinal arteriolar tortuosity Hypertensive crisis Abnormal aortic arch morphology Multiple suture craniosynostosis Tricuspid atresia Muscle weakness Atypical scarring of skin Abnormality of corneal stroma Sleep apnea Premature loss of teeth Esophageal atresia Hemoptysis Prematurely aged appearance Keratoconus Scleroderma Fragile skin Abnormal heart valve morphology Telangiectasia of the skin Melanocytic nevus Aortic aneurysm Abnormality of the urinary system Tinnitus Abnormal intestine morphology Subarachnoid hemorrhage Short chin Congenital hip dislocation Cardiac arrest Telangiectasia Abnormality of the face Thin skin Migraine Premature birth Vertigo Proptosis Hypertrophic auricular cartilage Cystic lesions of the pinnae Costal cartilage calcification Laryngotracheal stenosis Dilatation of the cerebral artery Narrow nose Hypoplastic cervical vertebrae Dermal translucency 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 Abnormal oral frenulum morphology Gastrointestinal infarctions Ascending tubular aorta aneurysm Transient ischemic attack 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 Reduced consciousness/confusion Osteolytic defects of the phalanges of the hand Hematochezia Abnormally large globe Aortic dissection Glabellar hemangioma Hitchhiker thumb Coronary artery aneurysm Anteverted nares 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 Round face Bursitis Pneumonia Ventral hernia Shoulder dislocation Squared iliac bones Knee dislocation Thin eyebrow Abnormality of the vasculature Atrophic scars Hallux valgus Bilateral ptosis Cutis laxa Webbed neck Papule Osteopenia Osteoporosis Chronic rhinitis Severe short stature Cervical kyphosis Short finger 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 Large earlobe Thoracic dysplasia Spinal cord compression Overweight Ulnar deviation of finger Proximal placement of thumb Arthralgia Elbow dislocation Short long bone Disproportionate short-limb short stature Abnormality of the metacarpal bones Abnormality of the outer ear Hoarse voice Increased bone mineral density Bowing of the long bones Abnormal form of the vertebral bodies Limb undergrowth Cerebral calcification Hip dysplasia Micromelia Abnormality of the foot Gingival recession Molluscoid pseudotumors Trichiasis Abnormality of dentin Ichthyosis Nail dystrophy Sparse hair Erythema Carcinoma Photophobia Hyperkeratosis Hyperhidrosis Pes cavus Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Bicarbonaturia Nail dysplasia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Palmoplantar keratoderma Thickened skin Abnormality of the renal tubule Keratoconjunctivitis sicca Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Recurrent bacterial skin infections Corneal scarring Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Dystrophic fingernails Oral leukoplakia Hypoplastic fingernail Dystrophic toenail Corneal erosion Severe hearing impairment Hypohidrosis Cellulitis Squamous cell carcinoma Hemiplegia/hemiparesis Hypoplastic toenails Absent eyebrow Keratitis Congenital sensorineural hearing impairment Scaling skin Urticaria Reduced tendon reflexes Sparse eyelashes Conjunctivitis Elbow flexion contracture Sparse and thin eyebrow Cheilitis Lacrimation abnormality Spontaneous pneumothorax Areflexia Increased serum lactate Recurrent fractures Metabolic acidosis Everted lower lip vermilion Hematuria Congenital cataract Platyspondyly Corneal opacity Irritability Proteinuria EEG abnormality Acidosis Hyporeflexia Renal insufficiency Sparse scalp hair Ventriculomegaly Frontal bossing Feeding difficulties Anemia 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 Arterial rupture Foot acroosteolysis Dehydration Hypoplasia of dental enamel Buphthalmos Diabetes insipidus Hyperphosphaturia Generalized hypopigmentation Renal tubular dysfunction Taurodontia Hyperaldosteronism Joint swelling Renal tubular acidosis Osteomalacia Glomerulopathy Hyperparathyroidism Pathologic fracture Congenital glaucoma Hypophosphatemia Open bite Flat occiput Dental crowding Obsessive-compulsive behavior Hyponatremia Self-injurious behavior Glomerulonephritis Rickets Hypercalciuria Deep philtrum Hypercholesterolemia Azoospermia Aminoaciduria Clonus Stereotypy Amblyopia Nephrolithiasis Slender toe



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