Cryptorchidism, and Stereotypy

Diseases related with Cryptorchidism and Stereotypy

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

Top matches:

DIDOD is a disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity. The severity of the phenotype and additional features are variable (summary by Jansen et al., 2018).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES; DIDOD

Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Other less relevant matches:

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

Medium 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

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match ADNP SYNDROME

ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.

ADNP SYNDROME Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder|hvdas|mental retardation, autosomal dominant 28|mrd28|helsmoortel-van der aa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADNP SYNDROME

Medium match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Medium match CRI-DU-CHAT SYNDROME

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Stereotypy

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Gastroesophageal reflux

Uncommon Symptoms - Between 30% and 50% cases

Aggressive behavior

Common Symptoms - More than 50% cases

Autistic behavior

Uncommon Symptoms - Between 30% and 50% cases

Autism

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Synophrys Deeply set eye Growth delay Muscular hypotonia Hernia Anxiety Hyperactivity High palate Scoliosis Intellectual disability, severe Short nose Behavioral abnormality Epicanthus Abnormal facial shape Macrotia Small hand Muscular hypotonia of the trunk Feeding difficulties Malar flattening Thin upper lip vermilion Neonatal hypotonia Brachycephaly Downturned corners of mouth Self-injurious behavior Astigmatism Sleep disturbance Ventricular septal defect Hypertonia Visual impairment Cataract Failure to thrive Hearing impairment Tented upper lip vermilion Frontal bossing Talipes equinovarus Absent speech Wide nasal bridge Developmental regression Constipation Midface retrusion Recurrent infections Depressed nasal bridge Prominent forehead Spasticity Joint hypermobility Abnormal heart morphology Highly arched eyebrow Hypermetropia Short philtrum Attention deficit hyperactivity disorder Facial asymmetry Broad forehead Inguinal hernia Clinodactyly Obesity Coarse facial features Ptosis Anteverted nares Micrognathia Ataxia

Rare Symptoms - Less than 30% cases

Intellectual disability, profound Low anterior hairline Atrial septal defect Abnormality of the dentition Abnormality of cardiovascular system morphology Recurrent respiratory infections Widely spaced teeth Short attention span Severe global developmental delay Language impairment Hypoplasia of penis Patent ductus arteriosus Pulmonary artery stenosis Thick lower lip vermilion Self-mutilation Hypospadias Narrow nasal bridge Ventriculomegaly Myopia Encephalopathy Hallucinations Feeding difficulties in infancy Psychosis Postnatal growth retardation Wide mouth Protruding ear EEG abnormality Aspiration Cerebral cortical atrophy Abnormality of the pinna Microtia Optic atrophy Obsessive-compulsive behavior Single transverse palmar crease Everted lower lip vermilion Poor eye contact Microretrognathia Infantile muscular hypotonia Arrhythmia Poor speech Respiratory distress Horizontal eyebrow Clinodactyly of the 5th finger Brachydactyly Round face Delayed gross motor development Inverted nipples Impulsivity Deep philtrum Thick eyebrow Poor head control Dysphagia Short chin Vesicoureteral reflux Broad nasal tip Long face Low-set, posteriorly rotated ears Micropenis Syndactyly Nystagmus Echolalia Tetralogy of Fallot Upslanted palpebral fissure Drooling High forehead Thin vermilion border Motor delay Narrow forehead Overfriendliness Waddling gait Abnormality of the foot Underdeveloped nasal alae High, narrow palate Tachycardia Long eyelashes Lethargy Pectus carinatum Fine hair Growth hormone deficiency Sparse and thin eyebrow Redundant skin Ventricular extrasystoles Short columella Esophageal atresia Aplasia/Hypoplasia of the eyebrow Delayed cranial suture closure Broad hallux Coarse hair Proptosis Scrotal hypoplasia Shock Delusions Cutis laxa Ventricular tachycardia Torticollis Stenosis of the external auditory canal Cerebral atrophy Delayed skeletal maturation High-pitched cry Iris coloboma Oppositional defiant disorder Sparse scalp hair Broad thumb Amblyopia Exotropia Cerebral visual impairment Plagiocephaly Anterior open-bite malocclusion Hirsutism Cat cry Bilateral ptosis Conspicuously happy disposition Smooth philtrum Diastasis recti Coloboma Hyperacusis Abnormality of bone mineral density Joint laxity Functional respiratory abnormality Auditory hallucinations Long palpebral fissure Excessive daytime somnolence High axial triradius Generalized neonatal hypotonia Juvenile cataract Facial grimacing Microtia, first degree Eyelid coloboma Short neck Shuffling gait Protruding tongue Thickened helices Recurrent fractures Postural instability Tracheomalacia Bifid uvula Dental malocclusion Natal tooth Advanced eruption of teeth Bowel incontinence Supernumerary nipple Apathy Chronic otitis media Pyloric stenosis Bicuspid aortic valve Coarctation of aorta Abnormal renal morphology Oral cleft Macroglossia Small for gestational age Difficulty walking Intrauterine growth retardation Cleft lip Cleft palate Intellectual disability, moderate Abnormality of the kidney Tracheobronchomalacia Abnormal myelination Exaggerated cupid's bow Finger syndactyly Joint hyperflexibility Conotruncal defect U-Shaped upper lip vermilion Bronchomalacia Persistence of primary teeth Limitation of joint mobility Renal cyst Premature graying of hair Premature coronary artery atherosclerosis Minimal subcutaneous fat Abnormality of the forehead Abnormal head movements Cardiogenic shock Abnormality of the nares Capillary malformation Metatarsus adductus Tracheoesophageal fistula High pitched voice Everted upper lip vermilion Pes planus Unilateral cryptorchidism Torsade de pointes Supraventricular tachycardia Thick upper lip vermilion Enlarged naris Facial wrinkling Short metacarpal Abnormality of the cerebral white matter Delayed eruption of teeth Preauricular skin tag Narrow face Flat face Horseshoe kidney Pulmonic stenosis Poor suck Renal insufficiency Abnormal cardiac septum morphology Short metatarsal Hydronephrosis Dyspnea Mandibular prognathia Agenesis of corpus callosum Prominent supraorbital ridges Acetabular dysplasia Anterior synechiae of the anterior chamber Abnormality of lower lip Hypothyroidism Lower limb spasticity Aganglionic megacolon Chorea Neurodegeneration Respiratory tract infection Rigidity Narrow mouth Optic nerve hypoplasia Pneumonia Depressivity Abnormality of metabolism/homeostasis Myopathy Macrocephaly Severe receptive language delay Self-biting Severe muscular hypotonia Premature ovarian insufficiency Abnormality of brain morphology Hostility Visual loss Microphthalmia Blindness Hyperreflexia Muscle weakness Sensorineural hearing impairment Neoplasm Infantile axial hypotonia Myotonia Central hypoventilation Bruxism Chronic constipation Facial hypotonia Central hypotonia Hypoventilation Progressive spasticity Severe expressive language delay Gonadal dysgenesis Myoclonus Polycystic ovaries Cerebellar hypoplasia Cerebellar atrophy Dysarthria Pain Long toe Cavum septum pellucidum Easy fatigability Prominent nasal bridge Cafe-au-lait spot Insulin resistance Broad-based gait Tapered finger Thick vermilion border Blepharophimosis Long philtrum Posteriorly rotated ears Neurological speech impairment Neurodevelopmental delay Pain insensitivity 2-3 toe syndactyly Unilateral renal agenesis Precocious puberty Hypogonadism Broad chin Overfolding of the superior helices Oval face Delayed ability to walk Dysmetria Myopathic facies Overfolded helix Abnormality of the genitourinary system Apraxia Decreased fetal movement Delayed myelination Triangular face Dementia Diabetes mellitus Paroxysmal bursts of laughter Neoplasm of the eye Retrognathia Gait ataxia Vomiting Fever Vascular neoplasm Anterior chamber synechiae Uterine rupture Short palm Aplasia/Hypoplasia of the lens Abnormal cochlea morphology Retinopathy of prematurity Abnormality of the diencephalon Corneal degeneration Abnormal vitreous humor morphology Posterior synechiae of the anterior chamber Bulbous nose Short foot Erectile abnormalities Finger clinodactyly Hemifacial hypoplasia Macrodontia Polyphagia Cupped ear Focal impaired awareness seizure Sandal gap Absence seizures Generalized hirsutism Prominent nose Dental crowding Open mouth Epileptic encephalopathy Hip dysplasia Febrile seizures Focal-onset seizure Esotropia Phthisis bulbi Leukocoria Glaucoma Retinal detachment Progressive hearing impairment Intellectual disability, progressive Opacification of the corneal stroma Clonus Hypotelorism Migraine Retinal degeneration Ectopia lentis Confusion Delayed puberty Corneal opacity Retinopathy Irritability Abnormality of the eye Abnormality of the nervous system Cachexia Aplasia/Hypoplasia of the cerebellum Abnormal chorioretinal morphology Abnormality of the retinal vasculature Shallow anterior chamber Exudative vitreoretinopathy Remnants of the hyaloid vascular system Retinal fold Retinoblastoma Venous insufficiency Abnormal pupil morphology Abnormality of the helix Abnormal retinal morphology Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Hypoplasia of the iris Severe vision loss Abnormality of immune system physiology Recurrent infections in infancy and early childhood


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