Cryptorchidism, and Protruding ear

Diseases related with Cryptorchidism and Protruding ear

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


Top matches:

High match MENTAL RETARDATION, X-LINKED 93; MRX93


MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

High match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

High 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:

High match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

High match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

High match X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME


X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.

Related symptoms:

  • Seizures
  • Microcephaly
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED MICROCEPHALY-GROWTH RETARDATION-PROGNATHISM-CRYPTORCHIDISM SYNDROME

High match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Top 5 symptoms//phenotypes associated to Cryptorchidism and Protruding ear

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Generalized hypotonia Flexion contracture Intellectual disability, severe Motor delay Short stature Epicanthus Cleft palate Triangular face Single transverse palmar crease Prominent forehead Macrotia Hearing impairment Spasticity Inguinal hernia Muscular hypotonia Camptodactyly Delayed speech and language development Strabismus Deeply set eye Pointed chin Hypertelorism Sensorineural hearing impairment Abnormal facial shape Hypospadias

Rare Symptoms - Less than 30% cases


Thin upper lip vermilion Ventriculomegaly Convex nasal ridge Facial asymmetry Atrial septal defect Intellectual disability, mild Agenesis of corpus callosum Hypoplasia of the corpus callosum Tapered finger Macrocephaly Failure to thrive Overlapping toe Micrognathia Finger syndactyly Growth delay Renal dysplasia Iris coloboma Long face Self-injurious behavior Knee flexion contracture Hernia Dandy-Walker malformation Bulbous nose Bifid uvula High palate Cerebral cortical atrophy Pectus excavatum Talipes equinovarus Coarse facial features Mandibular prognathia Hydrocephalus Lumbar hyperlordosis Interphalangeal joint contracture of finger Short phalanx of finger Decreased muscle mass Abnormal vertebral morphology Congenital hip dislocation Pterygium Webbed neck Bilateral talipes equinovarus Cutaneous finger syndactyly Submucous cleft hard palate Syndactyly Limitation of joint mobility Short neck Dental crowding Laryngomalacia Ankle contracture Pulmonary artery stenosis Severe postnatal growth retardation Branchial cyst Sacral lipoma Ptosis Clinodactyly of the 5th finger Abnormality of skin pigmentation Kyphoscoliosis Hyperlordosis Retinopathy Camptodactyly of finger Arthrogryposis multiplex congenita Ophthalmoplegia Abnormality of the foot Talipes Distal arthrogryposis Spastic tetraplegia Thoracolumbar scoliosis Sepsis Wide nasal bridge Downslanted palpebral fissures Ventricular septal defect Cardiomyopathy Congestive heart failure Pneumonia Micropenis Retrognathia Hypertrophic cardiomyopathy Blepharophimosis Polymicrogyria Gliosis Hyperconvex nail Focal-onset seizure Sloping forehead Narrow palpebral fissure Cutis laxa Focal impaired awareness seizure Mask-like facies Right bundle branch block Bundle branch block Disproportionate tall stature Entropion Cavum septum pellucidum Wide nasal base Cataract Broad alveolar ridges Down-sloping shoulders Hirsutism Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Nystagmus Visual impairment Optic atrophy Hyperactivity Neonatal hypotonia Severe global developmental delay Synophrys Tetraplegia Limb joint contracture Recurrent infections Abnormality of the genital system Low anterior hairline Generalized hirsutism Intellectual disability, progressive Lissencephaly Renal hypoplasia/aplasia Prominent supraorbital ridges Abnormality of the hip bone Infantile spasms Abnormally large globe Abnormal hair pattern Gastroesophageal reflux Coronal hypospadias Abnormality of the basal ganglia Wide nose Absent speech Telecanthus Muscular hypotonia of the trunk Abnormality of the pinna Short philtrum Small for gestational age Neurological speech impairment Smooth philtrum Thin vermilion border Downturned corners of mouth Short nose Highly arched eyebrow Round face Wide intermamillary distance Short palpebral fissure Absence seizures Microretrognathia Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent metopic ridge Long philtrum Dystonia Prominent nasal tip Sparse eyebrow Frontal bossing Kyphosis Pes planus Tall stature Cupped ear Midface retrusion Upslanted palpebral fissure Cleft lip Sparse eyelashes Ectropion Depressed nasal bridge Bilateral cleft lip Bilateral cleft lip and palate High anterior hairline Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Feeding difficulties Bruxism Long upper lip High-frequency hearing impairment High forehead Radioulnar synostosis Chorioretinal coloboma Ulnar deviation of finger Abnormal localization of kidney Dimple chin Hyperreflexia Cerebellar hypoplasia Dementia Gait ataxia Difficulty walking Short toe Aggressive behavior Wide mouth Thick vermilion border Neurodegeneration Prominent nose Cerebral calcification Choreoathetosis Narrow face Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification Abnormal palate morphology Choanal atresia Intrauterine growth retardation Hemivertebrae Microphthalmia Alopecia Hypotrichosis Ichthyosis Vesicoureteral reflux Decreased testicular size Postaxial hand polydactyly Renal hypoplasia Aganglionic megacolon Plagiocephaly Microcornea Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Brachydactyly Abnormality of the dentition Malar flattening Conductive hearing impairment Coloboma Toe syndactyly Flat face Narrow naris



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