Cryptorchidism, and Sleep disturbance

Diseases related with Cryptorchidism and Sleep disturbance

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


Top matches:

Low match SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME


Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.

SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME Is also known as siddt

Related symptoms:

  • Growth delay
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Arrhythmia
  • Hyporeflexia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SUDDEN INFANT DEATH-DYSGENESIS OF THE TESTES SYNDROME

Low match 16P13.2 MICRODELETION SYNDROME


16P13.2 MICRODELETION SYNDROME Is also known as del(16)(p13.2)|monosomy 16p13.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 16P13.2 MICRODELETION SYNDROME

Low 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:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

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Other less relevant matches:

Low match SEPTO-OPTIC DYSPLASIA SPECTRUM


Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod|septo-optic dysplasia|de morsier syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SEPTO-OPTIC DYSPLASIA SPECTRUM

Low match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION


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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

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 TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Low match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

Low match NORRIE DISEASE


Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Top 5 symptoms//phenotypes associated to Cryptorchidism and Sleep disturbance

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

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Feeding difficulties Growth delay Cleft palate Failure to thrive Low-set ears Absent speech Short nose Generalized hypotonia Strabismus Muscular hypotonia Delayed speech and language development Intellectual disability, severe Micropenis Cataract Protruding ear Short stature Micrognathia Spasticity Visual impairment Abnormal facial shape Agenesis of corpus callosum Depressivity Hypoplasia of penis Apnea Sleep apnea Anxiety Midface retrusion Malar flattening Hearing impairment

Rare Symptoms - Less than 30% cases


Neoplasm Muscular hypotonia of the trunk Recurrent infections Pneumonia Choanal stenosis Abnormality of the dentition Narrow mouth Visual loss Absence seizures Scoliosis Highly arched eyebrow Downturned corners of mouth Thin vermilion border Microphthalmia Bruxism Absent septum pellucidum Hypotelorism Optic nerve hypoplasia Aplasia/Hypoplasia of the cerebellum Intellectual disability, profound Behavioral abnormality Deeply set eye Developmental regression Brachycephaly Cerebral cortical atrophy Irritability Obstructive sleep apnea Macrotia Constipation Obesity Abnormality of cardiovascular system morphology Macroglossia Sensorineural hearing impairment Stereotypy Nystagmus Downslanted palpebral fissures Depressed nasal bridge Motor delay Abnormality of metabolism/homeostasis Autistic behavior Myoclonus Scrotal hypoplasia Gastroesophageal reflux Abnormality of the eye Aggressive behavior Patent ductus arteriosus Myopathy Dysphagia Macrocephaly Abnormal parotid gland morphology Ataxia Abnormality of the diencephalon Hypoplasia of the pharynx Projection of scalp hair onto lateral cheek Widely spaced primary teeth Ectopic adrenal gland Recurrent respiratory infections Progressive hearing impairment Corneal degeneration Hypothyroidism Lower eyelid coloboma Rigidity Abnormal vitreous humor morphology Posterior synechiae of the anterior chamber Phthisis bulbi Erectile abnormalities Leukocoria Abnormal chorioretinal morphology Shallow anterior chamber Respiratory tract infection Exudative vitreoretinopathy Sparse lower eyelashes Accessory spleen Retinopathy of prematurity Abnormality of the outer ear Anterior chamber synechiae Neoplasm of the eye Abnormal heart morphology Conductive hearing impairment Wide mouth Coloboma Microtia Iris coloboma Dental malocclusion Choanal atresia Encephalocele Preauricular skin tag Sparse eyelashes Reduced number of teeth Upper eyelid coloboma Uterine rupture Aplasia/Hypoplasia of the lens Atresia of the external auditory canal Agenesis of permanent teeth Glossoptosis Abnormality of the nose Cleft soft palate Anotia Abnormal cochlea morphology Bilateral microphthalmos Lacrimal duct stenosis Poor speech Mandibulofacial dysostosis Severe global developmental delay Chorea Remnants of the hyaloid vascular system Corneal opacity Hyperreflexia Respiratory distress Blindness Hypertonia Severe vision loss Dementia Diabetes mellitus Abnormality of immune system physiology Glaucoma EEG abnormality Abnormality of the nervous system Retinopathy Attention deficit hyperactivity disorder Delayed puberty Hostility Confusion Retinal degeneration Narrow nasal bridge Retinal detachment Abnormal retinal morphology Migraine Psychosis Hallucinations Clonus Self-injurious behavior Opacification of the corneal stroma Ectopia lentis Intellectual disability, progressive Muscle weakness Infantile axial hypotonia Neurodegeneration Poor head control Cachexia Retinal fold Aganglionic megacolon Lower limb spasticity Retinoblastoma Venous insufficiency Aspiration Severe muscular hypotonia Anterior synechiae of the anterior chamber Drooling Abnormal pupil morphology Infantile muscular hypotonia Tented upper lip vermilion Abnormality of the retinal vasculature Central hypoventilation Abnormality of the helix Premature ovarian insufficiency Retinal dysplasia Vitreoretinopathy Sclerocornea Myotonia Abnormality of the vasculature Progressive spasticity Poor eye contact Hypoventilation Central hypotonia Facial hypotonia Chronic constipation Hypoplasia of the iris Optic atrophy Echolalia Respiratory insufficiency Microretrognathia Long philtrum Prominent forehead Thin upper lip vermilion Telecanthus Abnormality of the pinna Short philtrum Small for gestational age Neurological speech impairment Smooth philtrum Wide nose Bifid uvula Round face Wide intermamillary distance Short palpebral fissure Widely spaced teeth Hypoplasia of the corpus callosum Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Prominent nasal tip Long upper lip High palate Myopia Intrauterine growth retardation Ventricular septal defect Hypospadias Gait ataxia Retrognathia Astigmatism Rhizomelia Dystonia Epicanthus Accelerated skeletal maturation Abnormal pattern of respiration Arrhythmia Hyporeflexia Feeding difficulties in infancy Ophthalmoplegia Ambiguous genitalia Bradycardia Cardiac arrest Abnormal autonomic nervous system physiology Abnormality of the voice Stridor Cardiorespiratory arrest Hypothermia Tongue fasciculations Ambiguous genitalia, male Testicular dysgenesis Premature adrenarche Bronchospasm Laryngospasm Partial development of the penile shaft Dysplastic testes Staccato cry Clinodactyly of the 5th finger Apraxia Large fontanelles Trigonocephaly Hallux valgus Delayed cranial suture closure Speech apraxia Perseveration Central sleep apnea Coxa valga Metaphyseal widening Ptosis High forehead Protruding tongue Epileptic spasms Abnormality of the testis Femoral hernia Subcortical cerebral atrophy Conotruncal defect Cerebral cortical hemiatrophy Abnormality of the skeletal system Talipes equinovarus Hydrocephalus Atrial septal defect Vomiting Headache Respiratory failure Hydronephrosis Aphasia Carcinoma Nausea Delayed eruption of teeth Hypertrichosis Increased intracranial pressure Loss of consciousness Upper limb undergrowth Papilledema Broad neck Broad ribs Osteosarcoma Papilloma Choroid plexus papilloma Choroid plexus carcinoma Dysphasia Flat occiput 2-3 toe syndactyly Septo-optic dysplasia Scaphocephaly Broad femoral neck Fatigue Dry skin Hypohidrosis Anosmia Polydipsia Tracheoesophageal fistula Hemiplegia/hemiparesis Diabetes insipidus Esophageal atresia Maternal diabetes Abnormality of the hypothalamus-pituitary axis Anterior pituitary hypoplasia Ventriculomegaly Apathy Anteverted nares Renal insufficiency Inguinal hernia Abnormal cardiac septum morphology Synophrys Everted lower lip vermilion Vesicoureteral reflux Specific learning disability Tetralogy of Fallot Coarctation of aorta Status epilepticus Aortic valve stenosis Aortic regurgitation Mutism Vascular neoplasm



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