Cryptorchidism, and Esotropia

Diseases related with Cryptorchidism and Esotropia

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


Top matches:

Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 10


Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Medium match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

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Other less relevant matches:

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Medium match HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Medium match 2Q23.1 MICRODELETION SYNDROME


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 PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match 3MC SYNDROME 2; 3MC2


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

Medium match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Top 5 symptoms//phenotypes associated to Cryptorchidism and Esotropia

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

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Short stature Cleft palate Micrognathia Hypertelorism Microcephaly Abnormal facial shape Prominent nasal bridge Micropenis Scoliosis Absent speech Hypertonia Frontal bossing Low-set ears Wide nasal bridge Small hand Highly arched eyebrow Nystagmus Growth delay Agenesis of corpus callosum Wide mouth Gastroesophageal reflux Ptosis Coarse facial features Clinodactyly Failure to thrive Intellectual disability, severe Retrognathia Apnea Muscular hypotonia of the trunk Smooth philtrum Epicanthus Hyperreflexia Brachydactyly Optic atrophy Delayed speech and language development Ventriculomegaly Hypoplasia of the corpus callosum Spasticity Short nose Autistic behavior Feeding difficulties Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Cleft lip Oculomotor apraxia Polyphagia Hypogonadism Adducted thumb Narrow forehead Wide intermamillary distance Hernia Abnormal heart morphology Olivopontocerebellar hypoplasia Cleft upper lip Depressivity Polyhydramnios Esodeviation Conductive hearing impairment Trigonocephaly Hydrocephalus Short neck Bilateral cryptorchidism Finger clinodactyly Ataxia Protruding ear Long face Open mouth Low-set, posteriorly rotated ears Dandy-Walker malformation Sleep disturbance Short foot Polydactyly Thick eyebrow Bulbous nose Broad forehead Postnatal growth retardation Muscular hypotonia Feeding difficulties in infancy Aggressive behavior Autism Posteriorly rotated ears Syndactyly Hyperactivity Constipation Fever Myopia Toe syndactyly Self-injurious behavior Downturned corners of mouth Spastic paraplegia Microretrognathia Prominent supraorbital ridges Anteverted nares Malar flattening Midface retrusion Skeletal dysplasia Progressive microcephaly Delayed myelination Wide nose Abnormality of the cerebral white matter Prominent nose Irritability Cerebral cortical atrophy Encephalopathy Visual impairment Cataract Hypermetropia Thin vermilion border Accessory oral frenulum Thick vermilion border Single transverse palmar crease Hypopigmentation of the skin Mesoaxial polydactyly Pterygium Tongue nodules Hamartoma of tongue Aortic valve stenosis Lobulated tongue Narrow palpebral fissure Abnormal oral frenulum morphology Sacral dimple Failure to thrive in infancy Poor suck Overfolded helix 2-3 toe syndactyly Y-shaped metacarpals Preaxial foot polydactyly Midline notch of upper alveolar ridge Overlapping toe Short femur Meningocele Sleep apnea Foot polydactyly Hamartoma Ectopic kidney Episodic tachypnea Hyperinsulinemia Delayed ability to walk Limited elbow extension Hypoventilation Hyperventilation Short humerus Fetal akinesia sequence Misalignment of teeth Mesoaxial hand polydactyly Hyperinsulinemic hypoglycemia Excessive salivation Abnormality of the philtrum Multiple pterygia Temperature instability Narrow palm Intermittent hyperventilation Ichthyosis Hypoplasia of olfactory tract Abnormality of the skeletal system Ventricular septal defect Congestive heart failure Rocker bottom foot Biparietal narrowing Deeply set eye Akinesia Impulsivity Occipital meningocele Abnormal cardiac septum morphology Hypothalamic hamartoma Bulimia Dilatation Broad hallux Bilateral cleft lip Omphalocele Abnormal cerebellum morphology Abnormal vertebral morphology Horseshoe kidney Torticollis Radioulnar synostosis Ectropion Supernumerary nipple Increased body weight Postaxial polydactyly Oral cleft Abnormality of the vertebral column Broad foot Abnormality of the kidney Depressed nasal tip Broad nasal tip Short 5th finger Diastasis recti Abnormality of the nervous system Bilateral cleft lip and palate Broad philtrum Inguinal hernia Bilateral conductive hearing impairment Hypoplasia of the musculature Limited elbow movement Epicanthus inversus Caudal appendage Prominence of the premaxilla Partial abdominal muscle agenesis Tremor Joint hypermobility Hip dislocation Long fingers Downslanted palpebral fissures Partial agenesis of the corpus callosum Gait disturbance Narrow nose Overlapping fingers Tibial bowing Otosclerosis Abnormal retinal morphology Molar tooth sign on MRI Long neck Abnormality of neuronal migration Spotty hypopigmentation Hypoplastic aortic arch Hearing impairment Cognitive impairment Preaxial hand polydactyly Blepharophimosis Aplasia/Hypoplasia of the corpus callosum Craniosynostosis Renal agenesis Telecanthus Apraxia Cerebellar vermis hypoplasia Renal dysplasia Umbilical hernia Radial deviation of finger Tachypnea Renal hypoplasia/aplasia Polycystic kidney dysplasia Preaxial polydactyly Hypospadias Hand polydactyly Epiphyseal stippling Focal-onset seizure Exotropia Posterior Y-sutural cataract Large fontanelles Hyperpigmentation of the skin Wide anterior fontanel Hemangioma Coarse hair Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings High iliac wings Sutural cataract Posterior wedging of vertebral bodies Bifid uvula Upslanted palpebral fissure Fasciculations Ambiguous genitalia Nevus Chorea Gliosis Macrotia Myoclonus Punctate cataract Cerebellar hypoplasia Cerebral atrophy Dystonia Depressed nasal bridge Muscle weakness Forehead hyperpigmentation Microdontia Hypoplasia of the maxilla Clitoral hypertrophy Underdeveloped nasal alae Progressive spasticity Cortical gyral simplification Poor head control Delayed gross motor development Sensorimotor neuropathy Long eyelashes Brain atrophy Poor eye contact Proptosis Peripheral neuropathy Coarctation of aorta Patent ductus arteriosus Abnormality of the dentition Atrial septal defect Long palpebral fissure Abnormality of brainstem morphology Delayed eruption of teeth Joint laxity Abnormality of skin pigmentation Joint hyperflexibility Pulmonic stenosis Carious teeth Narrow chest Sparse hair Pes planus Delayed fine motor development Osteopenia Prominent forehead Long philtrum Macrocephaly Visual fixation instability Abnormality of the cerebral cortex Hypergonadotropic hypogonadism Hypoplasia of the brainstem Short palpebral fissure Focal impaired awareness seizure Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Cupped ear Language impairment Tented upper lip vermilion Flexion contracture Infantile muscular hypotonia Widely spaced teeth Sandal gap Absence seizures Short chin Generalized hirsutism Abnormality of lower lip Talipes equinovarus Stereotypy Camptodactyly Decreased fetal movement Tapered finger Inability to walk Talipes Arthrogryposis multiplex congenita Hyperlordosis Neonatal hypotonia Respiratory insufficiency Hypoglycemia Mandibular prognathia Hyperhidrosis Obesity Kyphosis Respiratory distress Low anterior hairline Dental crowding Flat occiput Joint stiffness Visceromegaly Aqueductal stenosis Absent septum pellucidum Hemiplegia/hemiparesis Increased intracranial pressure Holoprosencephaly Babinski sign Flexion contracture of thumb Hyporeflexia Microphallus Sex reversal Thick upper lip vermilion Hypoplasia of the pons Nevus flammeus Oxycephaly Motor delay Hypoplasia of penis Facial asymmetry Epileptic encephalopathy Hip dysplasia Febrile seizures Everted lower lip vermilion Short palm Astigmatism Synophrys Vomiting Microtia EEG abnormality Gait ataxia Brachycephaly Clinodactyly of the 5th finger Behavioral abnormality Central Y-shaped metacarpal



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