Cryptorchidism, and Polyneuropathy

Diseases related with Cryptorchidism and Polyneuropathy

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


Top matches:

High match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

High match COCKAYNE SYNDROME TYPE 2


Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


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

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Other less relevant matches:

High match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

High match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

High match COCKAYNE SYNDROME TYPE 1


Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

Medium match 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome is a rare, genetic, developmental defect during embryogenesis disorder characterized by partial (unilateral testis, persistence of Müllerian duct structures) or complete (streak gonads only) gonadal dysgenesis, usually manifesting with primary amenorrhea in individuals with female phenotype but 46,XY karyotype, and sensorimotor dysmyelinating minifascicular polyneuropathy, which presents with numbness, weakness, exercise-induced muscle cramps, sensory disturbances and reduced/absent deep tendon reflexes. Germ cell tumors (seminoma, dysgerminoma, gonadoblastoma) may develop from the gonadal tissue.

Related symptoms:

  • Skeletal muscle atrophy
  • Pes cavus
  • Distal muscle weakness
  • Infertility
  • Polyneuropathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 46,XY GONADAL DYSGENESIS-MOTOR AND SENSORY NEUROPATHY SYNDROME

Medium match PEROXISOME BIOGENESIS DISORDER 14B; PEX14B


PBD14B is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy (Ebberink et al., 2012), all of which had been observed in patients with mild peroxisomal biogenesis disorders (e.g., Kelley et al., 1986; Poll-The et al., 1987). Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, was reported.Thoms and Gartner (2012) classified the disorder described by Ebberink et al. (2012) in their patient as a mild 'Zellweger syndrome (OMIM ) spectrum' (ZSS) disorder. See PBD1B (OMIM ) for a phenotypic description and discussion of genetic heterogeneity of less severe phenotypes on the Zellweger syndrome spectrum. See PBD9B (OMIM ) for another atypical peroxisome biogenesis disorder.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 14B; PEX14B

Medium match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Polyneuropathy

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Micropenis Hypogonadism Muscle weakness Ataxia Microcephaly Strabismus Kyphosis Flexion contracture Congenital cataract Hypergonadotropic hypogonadism Microcornea Intrauterine growth retardation Scoliosis Tremor Gait disturbance Peripheral neuropathy Sparse hair Seizures Severe short stature Optic atrophy Cerebral atrophy Decreased testicular size Babinski sign Dry skin Osteoporosis Pes cavus Congestive heart failure Decreased serum estradiol Hypermetropia Arrhythmia Mandibular prognathia Cardiomyopathy Retinopathy Spasticity Intellectual disability, mild Primary amenorrhea Abnormal pyramidal sign Dental malocclusion Bilateral sensorineural hearing impairment Atypical scarring of skin Microphthalmia Hypogonadotrophic hypogonadism Prominent nasal bridge Dysarthria Amenorrhea Ventriculomegaly Cognitive impairment Intellectual disability, severe Postnatal growth retardation Talipes equinovarus Diabetes mellitus Motor delay Cutaneous photosensitivity Pigmentary retinopathy Sensory neuropathy

Rare Symptoms - Less than 30% cases


Midface retrusion Inguinal hernia Hernia Long philtrum Delayed speech and language development Abnormal facial shape Neoplasm Growth delay Patchy demyelination of subcortical white matter Abnormal peripheral myelination Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Slender nose Hypothyroidism Triangular face High forehead Pes planus Streak ovary Abnormality of peripheral nerve conduction Decreased serum testosterone level Hypoplasia of the uterus Peripheral demyelination Knee flexion contracture Cerebral cortical atrophy Abnormality of the skeletal system Downslanted palpebral fissures High palate Micrognathia Talipes Pectus carinatum Joint laxity Kyphoscoliosis Short philtrum Bilateral cryptorchidism Dysmetria Increased cellular sensitivity to UV light Broad nasal tip Hypotelorism Insulin resistance Postural tremor Increased circulating gonadotropin level Pectus excavatum Misalignment of teeth Generalized hypotonia Low-set ears Depressed nasal bridge Epicanthus Abnormality of metabolism/homeostasis Severe photosensitivity Hyperlordosis Normal pressure hydrocephalus Deeply set eye Cardiac arrest Diarrhea Limitation of joint mobility Abnormality of skin pigmentation Carious teeth Small for gestational age Abnormality of the pinna Proteinuria Renal insufficiency Paresthesia Splenomegaly Loss of facial adipose tissue Hepatomegaly Hypertension Failure to thrive Thrombocytopenia Hypoglycemia Secondary amenorrhea Opacification of the corneal stroma Headache Hypoplasia of teeth Abnormality of visual evoked potentials Hypoplastic iliac wing Dry hair Anorexia Abnormal auditory evoked potentials Progeroid facial appearance Delayed eruption of primary teeth Decreased lacrimation Basal ganglia calcification Thickened calvaria Reduced subcutaneous adipose tissue Anhidrosis Decreased nerve conduction velocity Anemia Hypoplastic pelvis CNS demyelination Chorioretinitis Retinal pigment epithelial mottling Thymic hormone decreased Large hands Menstrual irregularities Severe postnatal growth retardation Distal muscle weakness Neoplasm of the skin Atherosclerosis Leukodystrophy Cerebral calcification Abnormal heart morphology Skeletal muscle atrophy Atrial septal defect Infertility Visual loss Sensorimotor neuropathy Reduced tendon reflexes Steppage gait Abnormality of female external genitalia Decreased number of peripheral myelinated nerve fibers Gonadal dysgenesis Male hypogonadism Gonadoblastoma Distal sensory loss of all modalities Hydrocephalus Testicular dysgenesis Ventricular septal defect Abnormal vagina morphology Dementia Metatarsus adductus Slender ulna Hypoplasia of the maxilla Short toe Short phalanx of finger Postnatal microcephaly Low posterior hairline Lumbar hyperlordosis Growth hormone deficiency Short metacarpal Everted lower lip vermilion Gastroesophageal reflux Short palm Polymicrogyria Peripheral axonal neuropathy Severe global developmental delay Feeding difficulties in infancy Low-set, posteriorly rotated ears Intellectual disability, moderate Clonus Intellectual disability, progressive Prominent nipples Abnormality of the antihelix Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Abnormal toenail morphology Tracheomalacia Abnormal dermatoglyphics Thoracic scoliosis Ulnar deviation of finger Prematurely aged appearance Spastic diplegia Gonadal dysgenesis with female appearance, male Epiphyseal dysplasia Abnormality of the hand Sensory ataxic neuropathy Hydrocele testis Gonadal dysgenesis, male Progressive alopecia Small hand Camptodactyly of finger Myalgia Proximal muscle weakness Abnormality of the dentition Fever Hypoplasia of the fallopian tube Interphalangeal joint contracture of finger Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Increased thyroid-stimulating hormone level Abnormal spermatogenesis Abnormal T-wave Anodontia Heart block Chorea Intention tremor Autoimmune thrombocytopenia Genu recurvatum Acute rhabdomyolysis Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Motor axonal neuropathy Malignant hyperthermia Split hand Myoglobinuria Axonal loss Rhabdomyolysis Axonal degeneration Decreased motor nerve conduction velocity CNS hypomyelination Long eyelashes Insulin-resistant diabetes mellitus Aplasia/Hypoplasia of the eyebrow Blind vagina Progressive sensorineural hearing impairment Alopecia Dystonia Frontal bossing Hyperreflexia Hypertelorism Pallor Arnold-Chiari type I malformation Progressive hearing impairment Camptodactyly Migraine Urinary incontinence Photophobia Areflexia Vomiting Minifascicle formation Abnormality of peripheral nerves Mental deterioration Protruding ear Flat occiput Myocardial infarction Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hallucinations Choreoathetosis Sparse scalp hair Fine hair Arthrogryposis multiplex congenita Psychosis Abnormality of extrapyramidal motor function Dehydration Prominent nose Abnormality of movement Delayed puberty Hypotrichosis Muscular hypotonia of the trunk Wrist drop Brachycephaly Cortical gyral simplification Low hanging columella Macrocytic anemia Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Ectopic kidney Chronic lung disease High pitched voice Sensory axonal neuropathy Megaloblastic anemia Unilateral renal agenesis Abdominal situs inversus Dysdiadochokinesis Slurred speech Shuffling gait Glioma Leukopenia Aminoaciduria Myopathy Blindness Edema Respiratory distress Respiratory insufficiency Myopia Hoarse voice Cone/cone-rod dystrophy Multinodular goiter Visual impairment Polycystic ovaries Muscular hypotonia Myelodysplasia Hyperglycemia Long neck Gastrointestinal stroma tumor Goiter Acanthosis nigricans Situs inversus totalis Abnormality of the hair Synophrys Dilated cardiomyopathy Attention deficit hyperactivity disorder Rigidity Clinodactyly Obesity Recurrent infections Falls Immunodeficiency Dermal atrophy Hypoplasia of the corpus callosum Hypoplasia of the iris Severe failure to thrive Cerebellar calcifications Subcortical white matter calcifications Long face Thiamine-responsive megaloblastic anemia Short chin Epidermal acanthosis Bone marrow hypocellularity Abnormality of the basal ganglia Lymphopenia Sideroblastic anemia Abnormal lung morphology Broad-based gait Renal hypoplasia Apraxia Progressive cerebellar ataxia Progressive peripheral neuropathy Sloping forehead Bradykinesia Limb undergrowth Paroxysmal atrial tachycardia Convex nasal ridge Renal agenesis Dilatation Prominent forehead Posteriorly rotated ears Keratoconus Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Aortic dissection Soft skin Aortic root aneurysm Slender finger Thoracic kyphoscoliosis Abnormality of the hip bone Atrophic scars Disproportionate tall stature Heart murmur Aortic aneurysm Intracranial hemorrhage Hyperextensible skin Lens luxation Keloids Aortic regurgitation Progressive congenital scoliosis Recurrent respiratory infections Hyporeflexia Encephalopathy Malar flattening Abnormal cardiac septum morphology Stroke Lethargy Spontaneous rupture of the globe Dural ectasia Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Corneal dystrophy Torticollis Glaucoma Joint hyperflexibility Single transverse palmar crease Retinal detachment Bruising susceptibility Joint hypermobility Unsteady gait Arachnodactyly Retinal degeneration Dolichocephaly Abnormal bleeding Retinal dystrophy Neutropenia Aciduria Neonatal hypotonia Abnormality of the skin Osteopenia Pancytopenia Generalized muscle weakness Sepsis Spina bifida occulta Dental crowding Joint dislocation Hyperbilirubinemia Increased body weight Recurrent pneumonia Spina bifida Joint contracture of the hand Tall stature Thin skin Gastrointestinal hemorrhage Blue sclerae High myopia Decreased fetal movement Oligohydramnios Mitral valve prolapse Overgrowth Esotropia Peripheral hypomyelination



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