Cryptorchidism, and Leukodystrophy

Diseases related with Cryptorchidism and Leukodystrophy

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


Top matches:

Medium match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Medium match GALLOWAY-MOWAT SYNDROME 3; GAMOS3


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Medium 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

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Other less relevant matches:

Medium match ZELLWEGER SYNDROME


Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Medium match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Medium match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

Medium match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Medium match PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME


Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Medium 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Leukodystrophy

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

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus

Common Symptoms - More than 50% cases


Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Strabismus Anteverted nares Spasticity Cerebral atrophy Cataract Hypoplasia of the corpus callosum Intrauterine growth retardation High palate Cerebellar hypoplasia Micrognathia Hypertelorism Coloboma Feeding difficulties Agenesis of corpus callosum Microphthalmia Hypospadias Wide nasal bridge Intellectual disability, severe Muscular hypotonia Hypogonadism Growth delay Hepatomegaly Decreased nerve conduction velocity Pachygyria Single transverse palmar crease Opacification of the corneal stroma Iris coloboma Epicanthus Hypertension Pigmentary retinopathy High forehead Prominent forehead Macrocephaly Proteinuria CNS hypomyelination Decreased lacrimation Constipation Abnormality of the pinna Ataxia Renal insufficiency Clinodactyly of the 5th finger Flexion contracture Downslanted palpebral fissures Brachydactyly Ptosis Ventriculomegaly Micropenis Low-set ears Hypermetropia Abnormal facial shape Splenomegaly Arrhythmia Microcornea

Rare Symptoms - Less than 30% cases


Normal pressure hydrocephalus Severe photosensitivity Loss of facial adipose tissue Delayed eruption of primary teeth Toe syndactyly Abnormal auditory evoked potentials Osteopenia Atypical scarring of skin Hypoplasia of teeth Dental malocclusion Severe short stature Mandibular prognathia Sparse hair Carious teeth Dry skin Abnormality of skin pigmentation Polyneuropathy Limitation of joint mobility Cutaneous photosensitivity Dry hair Delayed CNS myelination Anhidrosis Reduced subcutaneous adipose tissue Thickened calvaria Abnormality of visual evoked potentials Progeroid facial appearance Hypoplastic iliac wing Hypoplastic pelvis Small for gestational age Finger syndactyly Increased cellular sensitivity to UV light Flat occiput Brachycephaly Premature birth Hypsarrhythmia Absent speech Multicystic kidney dysplasia Severe muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Thin upper lip vermilion Pyloric stenosis Prolonged neonatal jaundice Feeding difficulties in infancy Retrognathia Adrenal hypoplasia Labial hypoplasia Chorioretinal coloboma Frontal bossing Short thumb Clinodactyly Recurrent respiratory infections Osteoporosis Tapered finger Hydronephrosis Slender nose Ventricular septal defect Hypothyroidism Craniosynostosis Square pelvis bone Peripheral dysmyelination Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter Postnatal growth retardation Depressed nasal bridge Abnormality of the skeletal system Talipes equinovarus Elevated hepatic transaminase Malar flattening Hydrocephalus Encephalopathy Patent ductus arteriosus Abnormal vertebral morphology Posteriorly rotated ears Hypertrichosis Jaundice Delayed myelination Kyphosis Basal ganglia calcification Facial asymmetry Coarctation of aorta Delayed speech and language development Visual impairment Cerebellar atrophy Midface retrusion Pectus excavatum Narrow mouth Deeply set eye Prominent nasal bridge Camptodactyly Hip dislocation Telecanthus Narrow forehead Neonatal hypotonia Peripheral demyelination Stage 5 chronic kidney disease Tremor Muscle weakness Blindness Cerebral cortical atrophy Myopia Areflexia Cortical gyral simplification Hyporeflexia Hypoplastic left heart Motor delay Diastasis recti Eyelid coloboma Chronic constipation Retinal dysplasia Abnormal eyelash morphology Missing ribs Double outlet right ventricle Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Aplasia/Hypoplasia of the eyebrow Hammertoe Duodenal atresia Macular hypoplasia Giant platelets Abnormal thrombocyte morphology Abnormality of the cervical spine Long hallux U-Shaped upper lip vermilion Abnormality of the head Nasolacrimal duct obstruction Broad columella Central hypothyroidism Clitoral hypoplasia Female hypogonadism Inferior vermis hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Orbital cyst Broad hallux phalanx Mitral stenosis Anterior pituitary hypoplasia Urethral stenosis Ectopic anus Heart murmur Horseshoe kidney Ectropion Growth hormone deficiency Aplasia of the optic tract Congenital cataract Abnormality of the hair Dermal atrophy Microdontia Hypoplasia of the iris Otitis media Webbed neck Eczema Severe failure to thrive Abnormal peripheral myelination Decreased antibody level in blood Intestinal malrotation Postural instability Subcortical white matter calcifications Bruising susceptibility Tachycardia Dehydration Pancytopenia Trigonocephaly Azoospermia Hand polydactyly Schizophrenia Infantile muscular hypotonia Uplifted earlobe Small scrotum Flexion contracture of thumb Tachypnea Abnormal palate morphology Holoprosencephaly Abnormal form of the vertebral bodies Lambdoidal craniosynostosis Bone marrow hypocellularity Spina bifida Aortic valve stenosis Short toe Sinusitis Small sella turcica Amblyopia Toe clinodactyly Cerebral white matter hypoplasia Abnormality of the anus Deep philtrum Cerebral visual impairment Narrow palate Supernumerary nipple Hypoplastic toenails Patent foramen ovale Bilateral ptosis Scrotal hypoplasia Tented upper lip vermilion Overfolded helix Gingival overgrowth Brisk reflexes Widely spaced teeth Oculomotor apraxia Pathologic fracture Long palpebral fissure Thin bony cortex Primitive reflex Microalbuminuria Tented philtrum Narrow nasal bridge Anal atresia Cleft palate Abnormality of the liver Narrow nasal tip Obesity Pneumonia Diabetes mellitus Lower limb hypertonia Coarse facial features Muscular hypotonia of the trunk Respiratory tract infection Hirsutism Cerebellar vermis hypoplasia Generalized myoclonic seizures Tethered cord Full cheeks Chordee Generalized-onset seizure Central hypotonia Syringomyelia Spinal canal stenosis Intellectual disability, profound Finger clinodactyly Polydactyly Annular pancreas Inability to walk Delayed ability to walk Poor eye contact Spastic tetraparesis Foot polydactyly Tetraparesis Postaxial foot polydactyly Epileptic encephalopathy Febrile seizures Microglossia Hypertonia Hyperreflexia Abnormality of the curvature of the vertebral column Sclerocornea Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Abnormality of the hypothalamus-pituitary axis Internal hemorrhage Anterior hypopituitarism Broad palm Short middle phalanx of finger Macrotia Renal hypoplasia Protruding ear Clonus Postaxial polydactyly Retinal dystrophy Bifid uvula Nail dysplasia Exotropia High myopia Blue sclerae Apraxia Synophrys Microretrognathia Plagiocephaly Proximal placement of thumb Anophthalmia Bifid scrotum Preaxial hand polydactyly Highly arched eyebrow Downturned corners of mouth Joint hypermobility Megakaryocyte dysplasia External ear malformation Smooth philtrum Nephrotic syndrome Diffuse mesangial sclerosis Hand clenching Corpus callosum atrophy Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Postnatal microcephaly Oligohydramnios Neoplasm Sloping forehead Convex nasal ridge Ichthyosis Arachnodactyly Edema Spasmus nutans Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypertensive crisis Dysarthria Myelin outfoldings CNS demyelination Glaucoma Upslanted palpebral fissure Delayed skeletal maturation Visual loss Respiratory insufficiency Cognitive impairment Thymic hormone decreased Chorioretinitis Retinal pigment epithelial mottling Menstrual irregularities Gait disturbance Severe postnatal growth retardation Large hands Neoplasm of the skin Atherosclerosis Knee flexion contracture Anorexia Cerebral calcification Retinopathy Dementia Hypoplasia of the semicircular canal Neonatal asphyxia Skeletal dysplasia Distal sensory impairment Spastic paraparesis Abnormal autonomic nervous system physiology Hypohidrosis Aganglionic megacolon Spastic tetraplegia Underdeveloped nasal alae Tetraplegia Coma Hypopigmentation of the skin Distal amyotrophy Hypopigmented skin patches Arthrogryposis multiplex congenita Abnormal pyramidal sign Distal muscle weakness Abnormality of the nervous system Hepatosplenomegaly Abdominal pain Myoclonus Pes cavus Peripheral neuropathy Torticollis Anosmia Hypoplasia of the cochlea Ileus Meconium ileus Peripheral hypomyelination Spotty hyperpigmentation Cerebral dysmyelination Microcolon White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction White forelock Portal hypertension Demyelinating peripheral neuropathy White hair Heterochromia iridis Blue irides Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Premature graying of hair Intestinal obstruction Acidosis EEG abnormality Talipes Subependymal cysts Abnormality of the dentition Atrial septal defect Short neck Scoliosis Hypoplastic olfactory lobes Intrahepatic biliary dysgenesis Sudanophilic leukodystrophy Very long chain fatty acid accumulation Elevated long chain fatty acids Hyperoxaluria Behavioral abnormality Brushfield spots Renal cortical microcysts Albuminuria Abnormal chorioretinal morphology Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Widely patent fontanelles and sutures Glutaric aciduria Intestinal lymphangiectasia Congestive heart failure Intellectual disability, mild Abnormality of the tongue Hypoglycemia Narrow chest Dolichocephaly Neurological speech impairment Leukemia Skin rash Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Intellectual disability, moderate Pes planus Short nose Inguinal hernia Abnormal heart morphology Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Recurrent infections Immunodeficiency Syndactyly Long philtrum Brachyturricephaly Hepatic cysts Corneal opacity Optic disc pallor Nephrocalcinosis Aminoaciduria Wide anterior fontanel Decreased liver function Rhizomelia Large fontanelles Hypoplasia of dental enamel Heterotopia Cholestasis Aciduria Reduced tendon reflexes Round face Macroglossia Renal cyst High, narrow palate Pulmonary hypoplasia Polymicrogyria Flat face Hepatic failure Malabsorption Intellectual disability, progressive Abnormal electroretinogram Tapetoretinal degeneration Epiphyseal stippling Ulnar deviation of the hand Profound global developmental delay Abnormality of the mitochondrion Redundant neck skin Abnormality of the helix Breech presentation Thickened nuchal skin fold Bell-shaped thorax Posterior embryotoxon Primary adrenal insufficiency Polycystic kidney dysplasia Underdeveloped supraorbital ridges Protruding tongue Congenital glaucoma Abnormality of coagulation Abnormality of neuronal migration Metatarsus adductus Rocker bottom foot Clitoral hypertrophy Cubitus valgus Cerebellar calcifications



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