Cryptorchidism, and Glioma

Diseases related with Cryptorchidism and Glioma

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

Top matches:

Related symptoms:

  • Seizures
  • Neoplasm
  • Cryptorchidism
  • Leukemia
  • Cafe-au-lait spot


SOURCES: OMIM MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 3; GLM3

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Other less relevant matches:

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Glioma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Strabismus Seizures Atrial septal defect Hypertelorism Abnormality of the skeletal system Hypothyroidism Skin tags Long fingers Hypoplasia of the corpus callosum Polydactyly Abnormality of the dentition Hydronephrosis Abnormality of the face Intrauterine growth retardation Hearing impairment Microcephaly Cleft palate Abnormal facial shape High forehead Cognitive impairment Ventricular septal defect Cataract Astrocytoma Short stature Epicanthus Downslanted palpebral fissures Low-set ears Midface retrusion Ptosis Scoliosis Macrocephaly

Rare Symptoms - Less than 30% cases

Cafe-au-lait spot Cleft lip Broad forehead Sacral dimple Vomiting Syndactyly Cortical dysplasia Acute lymphoblastic leukemia Hemihypertrophy Joint laxity Nevus flammeus Carcinoma Absent speech Anxiety Gliosis Talipes equinovarus Depressivity Pectus excavatum Coarse facial features Sparse eyebrow Medulloblastoma Motor delay Inguinal hernia Long face Hypermetropia Small for gestational age Prominent nasal bridge Sparse hair Hypotelorism Mandibular prognathia Micropenis Wide intermamillary distance High palate Recurrent infections Long philtrum Apnea Tremor Dysarthria Macroglossia Growth delay Ataxia Postaxial polydactyly Muscle stiffness Hypospadias Hemiparesis Broad neck Rigidity Heterotopia Underdeveloped nasal alae Abnormality of the sternum Scarring Coloboma Retinopathy Feeding difficulties Vertebral fusion Pulmonic stenosis Papule Microphthalmia Leukemia Hypotrichosis Iris coloboma Cerebral calcification Telecanthus Posteriorly rotated ears Arachnodactyly Micrognathia Malar flattening Spasticity Cleft upper lip Behavioral abnormality Failure to thrive Relative macrocephaly Oral cleft Nevus Sprengel anomaly Abnormality of hair texture Narrow nose Prominent fingertip pads Abnormality of the head Thoracic scoliosis Anteverted ears Chronic infection Down-sloping shoulders Colitis Agenesis of permanent teeth Basal cell carcinoma Fragile nails Brain neoplasm Spondylolisthesis Hamartomatous polyposis Ovarian carcinoma Overfolded helix Parietal bossing Vertebral wedging Impulsivity Abnormality of the sense of smell Fibroma Cervical ribs Prominent metopic ridge Supernumerary ribs Ectopic calcification Slender finger Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Milia Spina bifida occulta Disproportionate tall stature Retrognathia Conspicuously happy disposition Broad chin Positional foot deformity EEG abnormality Abnormality of hair pigmentation Severe hydrocephalus Lacrimal duct stenosis Hypotrophy of the small hand muscles Kyphoscoliosis Proteinuria Proptosis Glaucoma Abdominal pain Brachycephaly Visual loss Frontal bossing Pain Wide nasal bridge Pear-shaped nose Narrow palm Inflammation of the large intestine Spina bifida Melanocytic nevus Nephritis Glomerulonephritis Neoplasm of the skin Brachydactyly Hemivertebrae Hypogonadotrophic hypogonadism Short ribs Bradycardia Multifocal epileptiform discharges Hyperpigmentation of the skin Exotropia Abnormality of the ribs Hypotension Palmoplantar keratoderma Expressive language delay Carious teeth Facial palsy Multiple impacted teeth Delayed myelination Short distal phalanx of the thumb Tarsal synostosis Premature atrial contractions Absent tibia Patellar aplasia Abnormality of the nose Preaxial foot polydactyly Abnormality of the wrist Short columella Broad foot Absent radius Aplasia/Hypoplasia of the thumb Hallux valgus Limb duplication Short middle phalanx of finger Preaxial hand polydactyly Triphalangeal thumb Hand polydactyly Preaxial polydactyly Abnormality of the metacarpal bones Aplasia/Hypoplasia of the corpus callosum Depressed nasal ridge Prominent nose Limitation of joint mobility Short foot Rudimentary to absent tibiae Fibular duplication Thin vermilion border Choanal stenosis Facial asymmetry Abnormality of the cerebral white matter Craniosynostosis Abnormality of the pinna Dystonia Choroid plexus carcinoma Choroid plexus papilloma Papilloma Osteosarcoma Broad ribs Papilledema Mirror image polydactyly Upper limb undergrowth Loss of consciousness Increased intracranial pressure Sleep apnea Hypertrichosis Delayed eruption of teeth Nausea Respiratory failure Pneumonia Waddling gait Headache Downturned corners of mouth Talipes Palmar pits Cardiac fibroma Elbow dislocation Premature birth Renal cyst Abnormality of the kidney Hypoglycemia Umbilical hernia Patent ductus arteriosus Hepatomegaly Hamartomatous stomach polyps Irregular ossification of hand bones Bridged sella turcica Overgrowth Esophageal atresia Periorbital fullness Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Pointed chin Omphalocele Toe syndactyly Abnormality of earlobe Finger syndactyly Prominent forehead Dilatation Muscular hypotonia Postauricular pit Auricular pit Prune belly Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Tethered cord Visceromegaly Thick lower lip vermilion Diastasis recti Abnormality of the vasculature Neonatal hypoglycemia Enlarged kidney Central hypotonia Syringomyelia Neuroblastoma Supernumerary nipple Large for gestational age Psoriasiform dermatitis Abnormality of the outer ear Splenomegaly Abnormal heart morphology Aortic aneurysm Craniofacial hyperostosis Abnormal anterior chamber morphology Alopecia areata Abnormal aortic morphology Visceral angiomatosis Interrupted aortic arch Porencephalic cyst Bone cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Xanthomatosis Abnormal nasolacrimal system morphology Echolalia Ectopia pupillae Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Sclerocornea Capillary hemangioma Abnormality of the skull Arachnoid cyst Abnormal eyelash morphology Subcortical cerebral atrophy Epibulbar dermoid Hypoplasia of the iris Nystagmus Clinodactyly Obesity Hernia Thrombocytopenia Immunodeficiency Cardiomyopathy Gait disturbance Peripheral neuropathy Anemia Sensorineural hearing impairment Lipomas of the central neryous system Tricuspid valve prolapse Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Subcutaneous lipoma Lipoma Aplasia cutis congenita Pes cavus Freckling Inguinal freckling Pectus excavatum of inferior sternum Optic nerve glioma Prominent nasolabial fold Superior pectus carinatum Axillary freckling Lisch nodules Secundum atrial septal defect Multiple cafe-au-lait spots Neurofibromas Cerebral atrophy Cubitus valgus Low posterior hairline Specific learning disability Webbed neck Short neck Depressed nasal bridge Muscle weakness Few cafe-au-lait spots Glioblastoma multiforme Nephroblastoma Hypertonia Alopecia Hamartoma Subcutaneous nodule Absent septum pellucidum Multiple lipomas Dysphasia Aphasia Lipodystrophy Hemiplegia Mutism Hemangioma Osteolysis Aortic valve stenosis Pulmonary arterial hypertension Cerebellar hypoplasia Intellectual disability, profound Coarctation of aorta Dandy-Walker malformation Tetraplegia Neurological speech impairment Corneal opacity Paralysis Skeletal dysplasia Cerebral cortical atrophy Agenesis of corpus callosum Babinski sign Severe short stature Failure to thrive in infancy Macrotia Hip dislocation Abnormal cardiac septum morphology Blepharophimosis Protruding ear Pallor Feeding difficulties in infancy Intellectual disability, moderate Conductive hearing impairment Pes planus Hyperactivity Poor speech Upslanted palpebral fissure Abnormality of cardiovascular system morphology Kyphosis Hypertension Generalized hypotonia Long neck Gastrointestinal stroma tumor Multinodular goiter Chronic lung disease Shuffling gait Abnormality of the foot Dry skin Low hanging columella Abnormality of the genital system Pyloric stenosis Nasal speech Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Bicuspid aortic valve Widely spaced teeth Narrow palpebral fissure Joint dislocation Narrow palate Open mouth Joint hypermobility Status epilepticus Eczema Hip dysplasia Focal-onset seizure Otitis media Vesicoureteral reflux Everted lower lip vermilion Small hand High, narrow palate Bulbous nose Misalignment of teeth Increased circulating gonadotropin level Hypogonadism Polyneuropathy Sloping forehead Bradykinesia Pigmentary retinopathy Limb undergrowth Decreased testicular size Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Broad nasal tip Triangular face Sensory neuropathy Epidermal acanthosis Falls Dysmetria Synophrys Dilated cardiomyopathy Short philtrum Attention deficit hyperactivity disorder Abnormal pyramidal sign Postnatal growth retardation Deeply set eye Diabetes mellitus Apraxia Renal hypoplasia Abnormality of lipid metabolism Dysdiadochokinesis Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Slurred speech Cutaneous photosensitivity Goiter Leukopenia Acanthosis nigricans Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Abnormal lung morphology Broad-based gait Mild intrauterine growth retardation


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Hypothyroidism, related diseases and genetic alterations Macrocephaly and High, narrow palate, related diseases and genetic alterations Edema and Sudden cardiac death, related diseases and genetic alterations Pain and Low posterior hairline, related diseases and genetic alterations Strabismus and Short palpebral fissure, related diseases and genetic alterations Muscular hypotonia and Brain atrophy, related diseases and genetic alterations