Cryptorchidism, and Generalized seizures

Diseases related with Cryptorchidism and Generalized seizures

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

MRD6 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity. Additional features may include seizures, hypotonia, abnormal movements, such as dystonia, and autistic features. Some patients may have structural malformations of cortical development on brain imaging. The phenotype is highly variable and reflects a spectrum of neurodevelopmental abnormalities that range from mild intellectual disability without seizures to an encephalopathy (summary by Platzer et al., 2017).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM DOID MONDO UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES; MRD6

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MESH MONDO OMIM DOID UMLS

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

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Other less relevant matches:

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1

Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles. Most affected individuals with the X-linked form are female, while hemizygous males tend to die in utero. Affected females usually present with epilepsy, but have normal intelligence. Additional features include defects of the cardiovascular system, such as patent ductus arteriosus, bicuspid aortic valve, and dilation of the sinuses of Valsalva or the thoracic aorta (summary by Fox et al., 1998). Several patients with PVNH and mutations in the FLNA gene have been reported with a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous, and joint-related symptoms (summary by Reinstein et al., 2013). Genetic Heterogeneity of Periventricular Nodular HeterotopiaPeriventricular nodular heterotopia is a genetically heterogeneous condition: see also PVNH2 (OMIM ), caused by mutation in the ARFGEF2 gene (OMIM ) on chromosome 20q13; PVNH3 (OMIM ), associated with anomalies of 5p; PVNH5 (OMIM ), associated with deletions of chromosome 5q; PVNH6 (OMIM ), caused by mutation in the ERMARD gene (OMIM ) on chromosome 6q27; and PVNH7 (OMIM ), caused by mutation in the NEDD4L gene (OMIM ) on chromosome 18q21.The form of PVNH that was previously designated the Ehlers-Danlos variant (PVNH4) is now considered to be the same as X-linked PVNH1.

PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 Is also known as heterotopia, periventricular, x-linked dominant, heterotopia, familial nodular, nodular heterotopia, bilateral periventricular;nhbp;bpnh, heterotopia, periventricular, ehlers-danlos variant, periventricular nodular heterotopia 4, formerly;pvnh4, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica
  • Hypertelorism


SOURCES: UMLS GARD MONDO SCTID OMIM

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1

Low match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as 9q subtelomeric deletion syndrome; 9qstds; kleefstra syndrome due to 9q subtelomeric deletion; kleefstra syndrome due to del(9)(q34); kleefstra syndrome due to monosomy 9q34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: UMLS SCTID ORPHANET

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR Is also known as snyder-robinson mental retardation syndrome;srs;snyder-robinson syndrome

Related symptoms:

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


SOURCES: SCTID MESH MONDO UMLS ORPHANET OMIM GARD DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE; MRXSSR

Low match MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS

MEDS is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes (summary by Poulton et al., 2011).

MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM UMLS ORPHANET MONDO

More info about MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME; MEDS

Low match NICOLAIDES-BARAITSER SYNDROME; NCBRS

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

NICOLAIDES-BARAITSER SYNDROME; NCBRS Is also known as sparse hair and mental retardation, nbs;nicolaides-baraitser syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: SCTID ORPHANET MESH OMIM MONDO GARD UMLS

More info about NICOLAIDES-BARAITSER SYNDROME; NCBRS

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as mopd types i and iii; microcephalic osteodysplastic primordial dwarfism, taybi-linder type; primordial microcephalic dwarfism, crachami type; taybi-linder syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: ORPHANET

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Low match MENKES DISEASE

Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes.De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease.

MENKES DISEASE Is also known as mk;mnk, menkes syndrome, kinky hair disease, steely hair disease, copper transport disease;kinky hair disease; kinky hair syndrome; md; mk; mnk; menkes syndrome; steely hair disease; steely hair syndrome; trichopoliodystrophy; x-linked copper deficiency

Related symptoms:

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


SOURCES: MESH DOID NCIT OMIM MONDO UMLS SCTID ORPHANET GARD

More info about MENKES DISEASE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Generalized seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pica Intellectual disability, severe Anteverted nares Feeding difficulties Short stature Micrognathia Status epilepticus Failure to thrive Absence seizures Brachycephaly Agenesis of corpus callosum Growth delay Epileptic spasms Intrauterine growth retardation Spasticity Hypertelorism Highly arched eyebrow Bifid uvula Retrognathia Osteoporosis Absent speech Abnormal facial shape Cleft palate Intellectual disability, profound Smooth philtrum Autosomal dominant inheritance Muscular hypotonia Generalized myoclonic seizures Hypoplasia of the corpus callosum Obesity Behavioral abnormality High palate Synophrys Specific learning disability Prominent occiput

Rare Symptoms - Less than 30% cases


Dilatation Dysphasia Tics Abnormality of finger Prominent nose Abnormality of the face Gingival overgrowth Abnormality of the metacarpal bones Sparse scalp hair Hypotrichosis Joint dislocation Cerebellar hypoplasia X-linked recessive inheritance Thick lower lip vermilion Ptosis Mutism Protruding tongue Echolalia Abnormality of the metaphysis Abnormality of the testis Everted lower lip vermilion Cerebral cortical atrophy Scoliosis Inguinal hernia Dysarthria Wide intermamillary distance Pectus excavatum Joint laxity Hypertonia Narrow mouth Overfolded helix Aortic regurgitation Bulbous nose Broad distal phalanx of finger High, narrow palate Recurrent fractures Postnatal growth retardation Macroglossia Umbilical hernia Downslanted palpebral fissures Short philtrum Abnormality of the pinna Severe short stature Osteopenia Muscular hypotonia of the trunk Alopecia Patent ductus arteriosus Hernia Long philtrum Short nose Delayed skeletal maturation Low-set ears Small for gestational age Motor delay Brachydactyly Full cheeks Cortical visual impairment Hypsarrhythmia Chorea Intellectual disability, moderate Prolonged neonatal jaundice Autism Cerebral atrophy Arrhythmia Coarse facial features Aphasia Thin vermilion border Short palpebral fissure Abnormality of the skeletal system Short palm Sparse hair Long nose Downturned corners of mouth Widely spaced teeth Wide nose Wide nasal base Hydronephrosis Glaucoma Eczema Albuminuria Narrow nasal bridge Respiratory failure Microalbuminuria Primitive reflex Proptosis Thin bony cortex Abnormality of epiphysis morphology Rigidity Broad nasal tip Thick eyebrow Triangular face Pathologic fracture Short metacarpal Poor speech Long palpebral fissure Dyspnea Brisk reflexes Absent eyebrow Abnormal hair pattern Aggressive behavior Accelerated skeletal maturation Narrow palpebral fissure Drooling Thick nasal alae Short metatarsal Broad philtrum Sandal gap Clubbing of toes Eclabion Blepharophimosis Curly eyelashes Prominent interphalangeal joints Posteriorly rotated ears Unilateral narrow palpebral fissure Prominent proximal interphalangeal joints Short neck Long eyelashes Low anterior hairline Abnormality of cardiovascular system morphology Short phalanx of finger Wide mouth Malar flattening Clinodactyly of the 5th finger Excessive wrinkled skin Abnormality of the tragus Dolichocephaly Coarse hair Myopathic facies Osteomyelitis Cerebral hemorrhage Mask-like facies Intracranial hemorrhage Metaphyseal widening Albinism Hyperextensible skin Abnormal palate morphology Opisthotonus Spastic tetraparesis Cutis laxa Thickened skin Wormian bones Chronic diarrhea Bowing of the long bones Progressive neurologic deterioration Choreoathetosis Tarsal synostosis Shock Tetraparesis Arterial stenosis Therapeutic abortion Abnormal carotid artery morphology Hypocupremia Multiple joint dislocation Vascular tortuosity Spontaneous hematomas Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Hypopigmentation of hair Aplasia/Hypoplasia of the abdominal wall musculature Hypothermia Pili torti Woolly hair Chondrocalcinosis Exostoses Abnormality of lipid metabolism Atypical scarring of skin Death in childhood Athetosis Neurodegeneration Micromelia Rickets Abnormality of the intervertebral disk Abnormally ossified vertebrae Thin eyebrow Aplastic clavicle Abnormality of the upper urinary tract Thickened nuchal skin fold Osteomalacia Submucous cleft hard palate Muscle stiffness Aplasia/hypoplasia of the femur Hydroureter Large hands Abnormality of the urinary system Bilateral single transverse palmar creases Abnormal form of the vertebral bodies Sloping forehead Premature birth Thick vermilion border Abnormality of the kidney Abnormality of calcium-phosphate metabolism Abnormality of the distal phalanx of finger Hypopigmentation of the skin Developmental regression Gastrointestinal hemorrhage Sepsis Dry skin Malabsorption Nausea and vomiting Narrow chest Joint hyperflexibility Severe global developmental delay Hypoglycemia Large iliac wings Feeding difficulties in infancy Dementia Fatigue Diarrhea Cerebellar atrophy Muscle weakness Bifid femur Abnormality of the pubic bone Loss of eyelashes Cortical gyral simplification High myopia Tented upper lip vermilion Skeletal dysplasia Confusion Focal seizures Joint hypermobility Stroke Acrania Nephrotic syndrome Abnormality of the genital system X-linked dominant inheritance Micropenis Syndactyly Encephalopathy Intellectual disability, mild Wide nasal bridge Milia Abnormality of the placenta Intestinal malrotation Mitral regurgitation Neonatal insulin-dependent diabetes mellitus Emphysema Subependymal nodules Congenital nephrotic syndrome Enlarged cisterna magna Abnormality of the nose Shawl scrotum Abnormality of neuronal migration Cortical dysplasia Abnormality of the coagulation cascade Myocardial infarction Hamartoma Metaphyseal dysplasia Aortic aneurysm Patent foramen ovale Lissencephaly Bicuspid aortic valve Heterotopia Labial hypertrophy Abdominal wall defect Ventriculomegaly Focal seizures with impairment of consciousness or awareness Thin upper lip vermilion Prominent forehead Dystonia Delayed speech and language development Epicanthus Depressed nasal bridge Generalized tonic-clonic seizures with focal onset Choanal atresia Protruding ear Polymicrogyria Autistic behavior Anal atresia EEG abnormality Pes planus Atrial septal defect Visual impairment Telecanthus Neurological speech impairment Small anterior fontanelle Oligohydramnios Abnormality of earlobe Hypoplastic fingernail Shallow orbits Neonatal respiratory distress Precocious puberty Cardiomegaly Dehydration Ventricular septal defect Round face Hepatomegaly Long upper lip Prominent nasal tip Bruxism Prominent metopic ridge Partial agenesis of the corpus callosum Microretrognathia Hearing impairment Renal insufficiency Scrotal hypoplasia Long hallux Optic atrophy Autosomal recessive inheritance Asymmetry of the ears Long palm Focal motor seizures Narrow palm Small earlobe Hyperextensibility of the finger joints Pneumonia Slender build Slender finger Disproportionate tall stature Long fingers Decreased muscle mass Sparse eyebrow Broad-based gait Blindness Congenital onset Narrow face Hirsutism Deep philtrum CNS hypomyelination Narrow palate Hypertrichosis Cerebellar vermis hypoplasia Narrow forehead Delayed myelination Tapered finger Recurrent respiratory infections Abnormality of the liver Respiratory tract infection Neonatal hypotonia Jaundice Elevated hepatic transaminase Hypogonadism Diabetes mellitus Nasal speech Hyperpigmentation of the skin Midface retrusion Coarctation of aorta Subcortical cerebral atrophy Conotruncal defect Femoral hernia Absent septum pellucidum Apathy Flat occiput Aortic valve stenosis Tetralogy of Fallot Cognitive impairment Hypoplasia of penis Sleep disturbance Vesicoureteral reflux Abnormal cardiac septum morphology Irritability Anxiety Depressivity Cerebral cortical hemiatrophy Myopia Dental crowding Abnormality of movement Tall stature Spontaneous abortion Webbed neck Postural instability Arachnodactyly Unsteady gait Facial asymmetry Pectus carinatum Gait disturbance Camptodactyly Prominent nasal bridge Clonus Kyphoscoliosis Mandibular prognathia Myoclonus Talipes equinovarus Metaphyseal spurs



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