Cryptorchidism, and Autism

Diseases related with Cryptorchidism and Autism

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


Top matches:

High match RECESSIVE X-LINKED ICHTHYOSIS


Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

RECESSIVE X-LINKED ICHTHYOSIS Is also known as x-linked ichthyosis|rxli|xli|steroid sulfatase deficiency

Related symptoms:

  • Cryptorchidism
  • Hyperkeratosis
  • Autism
  • Attention deficit hyperactivity disorder
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE X-LINKED ICHTHYOSIS

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

High 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:

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


SOURCES: OMIM MENDELIAN

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

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Other less relevant matches:

High match X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE


X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cleft palate
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE

High 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

High match SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS


Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI (see this term) that are associated with extracutaneous manifestations as part of a syndrome.

SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS Is also known as recessive x-linked ichthyosis with extracutaneous manifestations|syndromic rxli

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS

High match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

High match STANKIEWICZ-ISIDOR SYNDROME; STISS


Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

High match INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY


Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY

Top 5 symptoms//phenotypes associated to Cryptorchidism and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development 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 Autism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autistic behavior Strabismus Abnormal facial shape Micropenis Cerebral visual impairment Behavioral abnormality Synophrys Visual impairment Low-set ears Motor delay Attention deficit hyperactivity disorder Thin upper lip vermilion Nystagmus

Rare Symptoms - Less than 30% cases


Enlarged cisterna magna Long face Focal impaired awareness seizure Scoliosis Hypospadias Micrognathia Poor speech Obsessive-compulsive behavior Prominent supraorbital ridges Downturned corners of mouth Hypertelorism Astigmatism Slender finger Abnormal cardiac septum morphology Prominent nose Myopia Hyperkeratosis Muscular hypotonia Hypsarrhythmia Wide nasal bridge Status epilepticus Upslanted palpebral fissure Intellectual disability, moderate Intellectual disability, severe Absent speech Macrocephaly Facial asymmetry Microcephaly Frontal bossing Atrial septal defect Hypohidrosis Spasticity Ventriculomegaly Ichthyosis Neurological speech impairment Pes planus Low anterior hairline Hyperreflexia Macrotia Anemia Disorganization of the anterior cerebellar vermis Infra-orbital crease Retrocerebellar cyst Abnormality of the philtrum Microphallus Dental crowding Deeply set eye Dysmetria Poor eye contact Abnormal cerebellum morphology External genital hypoplasia Scrotal hypoplasia Intention tremor Neonatal hypotonia Cerebellar vermis hypoplasia Hypotelorism Focal-onset seizure Short philtrum Drooling Triangular face Long nose Hyperlordosis Smooth philtrum Depressed nasal bridge Horizontal nystagmus Short thumb Abnormality of the kidney Shawl scrotum Retrognathia Truncus arteriosus Pineal cyst Patent ductus arteriosus Growth delay Feeding difficulties Gait ataxia Hearing impairment Delayed ability to walk Absent thumb Broad-based gait Epileptic encephalopathy Generalized myoclonic seizures Neutropenia Abnormality of the skeletal system Anteverted nares Hypermetropia Generalized tonic-clonic seizures Kyphosis Long philtrum Wide mouth Downslanted palpebral fissures Brachycephaly Mandibular prognathia Premature adrenarche Cerebral cortical atrophy Polymicrogyria Low posterior hairline Sloping forehead Decreased testicular size Broad nasal tip Cleft upper lip Oral cleft Cleft lip Polydactyly Intellectual disability, mild Cleft palate Generalized tonic-clonic seizures with focal onset Choanal atresia Chorea Dyskinesia Developmental regression Preaxial polydactyly Microtia Dry skin Opacification of the corneal stroma Epicanthus Immunodeficiency Posteriorly rotated ears Proptosis Abnormality of the foot EEG abnormality Febrile seizures Tall stature Hypoplasia of the corpus callosum Dystonia Cerebral atrophy Encephalopathy Nasal speech Large hands Hyperactivity Abnormality of the stomach Lissencephaly Unilateral renal agenesis Dysphasia Acute leukemia Abnormality of the abdominal wall Abdominal wall defect Testicular seminoma Hypogonadism Ataxia Cognitive impairment Tremor Dilatation Cerebellar hypoplasia Prominent forehead Corneal opacity Renal insufficiency Preaxial hand polydactyly Apraxia Thoracic kyphosis Bilateral cleft lip Bilateral cleft lip and palate Long toe Clinodactyly of the 5th finger Aggressive behavior Large fontanelles Short stature Trigonocephaly Hallux valgus Delayed cranial suture closure Speech apraxia Perseveration Central sleep apnea Impaired mastication



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