Cryptorchidism, and Sarcoma

Diseases related with Cryptorchidism and Sarcoma

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


Top matches:

Low match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Low match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

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Other less relevant matches:

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


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

Low match PAPILLOMA OF CHOROID PLEXUS; CPP


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

Low match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1


Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Low match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Low match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Top 5 symptoms//phenotypes associated to Cryptorchidism and Sarcoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macroglossia Cleft palate Nephroblastoma Long philtrum Midface retrusion Abnormal facial shape Malar flattening Short neck Epicanthus Global developmental delay Neurofibromas Micropenis Inguinal hernia Low-set ears Micrognathia Downslanted palpebral fissures Generalized hypotonia Hearing impairment Macrocephaly Osteosarcoma Rhabdomyosarcoma Abnormality of cardiovascular system morphology Sleep apnea Feeding difficulties Abnormality of the skeletal system Cataract Scoliosis High forehead Large for gestational age Ptosis Depressed nasal bridge Umbilical hernia Overgrowth Posteriorly rotated ears Hemihypertrophy Hernia Hydrocephalus Talipes equinovarus

Rare Symptoms - Less than 30% cases


Leukemia Telecanthus Broad neck Atrial septal defect Webbed neck Low posterior hairline Acute lymphoblastic leukemia Mandibular prognathia Relative macrocephaly Arnold-Chiari malformation Vomiting Muscular hypotonia Proptosis Sensorineural hearing impairment Dental crowding Neurological speech impairment Patent ductus arteriosus Obesity Frontal bossing High palate Flexion contracture Prominent metopic ridge Multiple renal cysts Hydronephrosis Small for gestational age Feeding difficulties in infancy Hypospadias Short nose Anteverted nares Wide nasal bridge Growth delay Kyphoscoliosis Delayed eruption of teeth Apnea Microcephaly Anemia Leiomyosarcoma Tall stature Nevus flammeus Diastasis recti Visceromegaly Omphalocele Premature birth Anterior creases of earlobe Embryonal neoplasm Accelerated skeletal maturation Facial asymmetry Delayed speech and language development Autistic behavior Strabismus Abnormality of the kidney Hypoglycemia Pulmonic stenosis Broad forehead Intellectual disability, mild Pectus carinatum Muscle weakness Clinodactyly Polyhydramnios Hepatomegaly Asymmetric growth Neonatal hypoglycemia Bicuspid aortic valve Carcinoma Ventricular septal defect Myelomeningocele Splenomegaly Asymmetry of the thorax Enlarged kidney Hepatoblastoma Gonadoblastoma Exocrine pancreatic insufficiency Long face Ureteral duplication Polycythemia Poor speech Nephropathy Wide anterior fontanel Neuroblastoma Vesicoureteral reflux Neurodevelopmental delay Prominent occiput Melanocytic nevus Prominent nose Redundant skin Congenital diaphragmatic hernia Cardiomegaly Wide mouth Nephrolithiasis Hypercalciuria Large fontanelles Hyperactivity Hypertrophic cardiomyopathy Nasal speech Arnold-Chiari type I malformation Syringomyelia Thickened calvaria Slender long bone Vertebral fusion Back pain Atresia of the external auditory canal Meningocele Coarse hair Osteolysis Microretrognathia Narrow palate Wormian bones Increased bone mineral density Narrow face Arachnoid cyst Osteolytic defects of the phalanges of the hand Coarse facial features Dural ectasia Hypothyroidism Autism Pseudohypoparathyroidism Short nasal bridge Basilar impression Abnormality of the middle ear ossicles Large sella turcica Craniofacial hyperostosis Sclerosis of skull base Tethered cord Biconcave vertebral bodies Platybasia Low back pain Generalized osteosclerosis Abnormality of the rib cage Otosclerosis Congenital megaureter Abnormality of earlobe Dermal atrophy Absent thumb Agenesis of permanent teeth Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Pyloric stenosis Neoplasm of the skin Increased number of teeth Congenital hip dislocation Short thumb Telangiectasia Short palpebral fissure Cutaneous photosensitivity Microdontia Skin vesicle Anteriorly placed anus Hypodontia Aplasia/Hypoplasia of the patella Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Skin erosion Aplasia/Hypoplasia of the thumb Acantholysis Patellar aplasia Rectovaginal fistula Concave nasal ridge Poikiloderma Absent radius Proportionate short stature Growth hormone deficiency Microcornea Choroideremia Abnormal form of the vertebral bodies Hypertension Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of pancreas morphology Large placenta Microphthalmia Posterior helix pit Branchial cyst Infra-orbital crease Adrenocortical carcinoma Facial hemangioma Urogenital fistula Elevated alpha-fetoprotein Diarrhea Alopecia Hypopigmentation of the skin Hip dislocation Short foot Small hand Short palm Flat face Anal atresia Nail dystrophy Corneal opacity Osteoporosis Skin rash Sparse hair Erythema Skeletal dysplasia Hyperkeratosis Glaucoma Hypogonadism Abnormal vertebral morphology Gait disturbance Abnormality of the skin Ataxia Respiratory failure Broad nasal tip Nausea Hypertrichosis Thin upper lip vermilion Increased intracranial pressure Loss of consciousness Upper limb undergrowth Papilledema Choanal stenosis Broad ribs Papilloma Choroid plexus papilloma Choroid plexus carcinoma Auricular pit Depressivity Nystagmus Abdominal wall defect Intrauterine growth retardation Ventriculomegaly Immunodeficiency Cerebellar hypoplasia Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly Postnatal growth retardation Muscular dystrophy Severe global developmental delay Generalized tonic-clonic seizures Wide nose Pneumonia Recurrent infections Generalized myoclonic seizures Abnormal pulmonary valve morphology Hemiareflexia Adrenocortical adenoma Pheochromocytoma Communicating hydrocephalus Increased circulating cortisol level Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Abnormality of the dentition Aplasia/Hypoplasia of the optic nerve Wide intermamillary distance Specific learning disability Cranial asymmetry Cafe-au-lait spot Cubitus valgus Headache Prominent nasolabial fold Thick lower lip vermilion Optic nerve hypoplasia Abnormality of the sternum Inguinal freckling Pectus excavatum of inferior sternum Optic nerve glioma Superior pectus carinatum Freckling Axillary freckling Lisch nodules Secundum atrial septal defect Speech apraxia Unilateral cryptorchidism Multiple cafe-au-lait spots Renal cyst Dandy-Walker malformation Urinary incontinence Triangular nasal tip Polycystic kidney dysplasia Radial deviation of finger Supernumerary nipple Aplasia/Hypoplasia of the eyebrow Microcytic anemia Underdeveloped supraorbital ridges Protruding tongue Brain neoplasm Aplasia/Hypoplasia of the earlobes Hypochromic microcytic anemia Hypochromic anemia Flat forehead Reduced alpha/beta synthesis ratio Hemoglobin H Neurocytoma Short toe Scarring High, narrow palate Iris coloboma Joint hypermobility Smooth philtrum Joint hyperflexibility Dolichocephaly Hyperlordosis Pain Conductive hearing impairment Pectus excavatum Kyphosis Hemifacial hypertrophy Peripheral neuropathy Motor delay Spina bifida Abnormal heart morphology Amenorrhea Short sternum Oligohydramnios Ambiguous genitalia Intellectual disability, profound Primary amenorrhea Hyperpigmentation of the skin Abnormality of the ureter Myelodysplasia Limb-girdle muscular dystrophy Bifid scrotum Combined immunodeficiency Severe intrauterine growth retardation Abnormality of the outer ear Acute leukemia Mild microcephaly Triangular mouth Abnormality of the genital system Retrognathia Bruising susceptibility Talipes Congenital cataract Microtia Low-set, posteriorly rotated ears Intellectual disability, moderate Respiratory distress Cerebral hypoplasia Fatigue Abnormality of the face Failure to thrive Hypodysplasia of the corpus callosum Embryonal rhabdomyosarcoma Premature chromatid separation Forearm reduction defects



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