Cryptorchidism, and Telecanthus

Diseases related with Cryptorchidism and Telecanthus

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


Top matches:

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

High match 3MC SYNDROME


3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

High match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

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Other less relevant matches:

High match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

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

High match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

High match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

High match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

High match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Top 5 symptoms//phenotypes associated to Cryptorchidism and Telecanthus

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Wide nasal bridge Global developmental delay Scoliosis Microcephaly Agenesis of corpus callosum Brachycephaly Ptosis Depressed nasal bridge Hearing impairment Seizures Short nose Wide intermamillary distance Delayed speech and language development Downturned corners of mouth Frontal bossing Upslanted palpebral fissure Glaucoma Cleft palate

Rare Symptoms - Less than 30% cases


Thin vermilion border Hypothyroidism Cataract Bilateral cryptorchidism Webbed neck Long philtrum Wide nose Telangiectasia Short neck Spasticity Dental malocclusion Hypoplasia of penis Pancytopenia Macrocephaly Highly arched eyebrow Umbilical hernia Myopia Abnormality of the skeletal system Strabismus Leukemia Anteverted nares Abnormality of the dentition Growth delay Abnormal facial shape Intellectual disability, moderate Midface retrusion Motor delay Encephalocele Hypoplasia of the corpus callosum Intellectual disability, severe Cleft lip Bifid nose Downslanted palpebral fissures Telangiectasia of the skin Malar flattening Brachydactyly Abnormality of the pinna Blepharophimosis Muscle weakness Atrial septal defect Posteriorly rotated ears Chordee Aplasia/Hypoplasia of the nipples Hypoplastic nipples Wide mouth Congenital sensorineural hearing impairment Vertical clivus Bifid nasal tip Thick nail Patellar hypoplasia U-Shaped upper lip vermilion Parietal foramina Frontal balding Large sella turcica Midline defect of the nose Retrocerebellar cyst Choroid plexus cyst Sensorineural hearing impairment Bifid scrotum Renal insufficiency Hernia Micropenis Proteinuria Stage 5 chronic kidney disease Everted lower lip vermilion Renal hypoplasia Thick lower lip vermilion Renal dysplasia Abnormal dermatoglyphics Pulmonic stenosis Superior pectus carinatum Specific learning disability Clinodactyly Psoriasiform dermatitis Leukocytosis Combined immunodeficiency Biparietal narrowing Severe combined immunodeficiency Acute leukemia Abnormality of chromosome stability Abnormality of bone marrow cell morphology Bird-like facies Large beaked nose Ventricular septal defect Kyphosis Patent ductus arteriosus Low anterior hairline Proptosis Blue sclerae Broad thumb Long eyelashes Short phalanx of finger Gingival overgrowth Patent foramen ovale Tricuspid regurgitation Mesomelia Agenesis of permanent teeth Anteriorly placed anus Pulmonary artery atresia Myelodysplasia Cutaneous photosensitivity Low posterior hairline Prominent nasolabial fold Cafe-au-lait spot Relative macrocephaly Cubitus valgus Neurofibromas Freckling Multiple cafe-au-lait spots Acute lymphoblastic leukemia Broad neck Secundum atrial septal defect Lisch nodules Axillary freckling Upper airway obstruction Optic nerve glioma Type II diabetes mellitus Pectus excavatum of inferior sternum Inguinal freckling Hepatomegaly Immunodeficiency Recurrent infections Thrombocytopenia Clinodactyly of the 5th finger Abnormality of the nervous system Erythema Malabsorption Lymphadenopathy Lymphoma Preaxial foot polydactyly Partial agenesis of the corpus callosum Widow's peak Open mouth Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Anemia Flexion contracture Congestive heart failure Abnormality of skin pigmentation Tetraplegia Sloping forehead Spastic tetraplegia Decreased body weight Epicanthus inversus Knee flexion contracture Drooling Adducted thumb Cortical gyral simplification Muscle fibrillation Neoplasm Hydrocephalus Mandibular prognathia Carious teeth Arachnodactyly Caudal appendage Abnormal nasal morphology Cerebral calcification Calvarial skull defect Intrauterine growth retardation Intellectual disability, mild Microphthalmia Alopecia Hypogonadism Underdeveloped nasal alae Oligohydramnios Fine hair Scrotal hypoplasia Coronal craniosynostosis Conical tooth Abnormal anterior chamber morphology Broad philtrum Agenesis of cerebellar vermis Hyperlordosis Postnatal growth retardation Craniosynostosis Hip dislocation Oral cleft Spina bifida occulta Radioulnar synostosis Supernumerary nipple Diastasis recti Iris coloboma Hypogonadotrophic hypogonadism Broad foot Talipes Long nose Nystagmus Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Talipes equinovarus Ventriculomegaly Syndactyly Polydactyly Cleft upper lip Microretrognathia Broad nasal tip Heterotopia Wide anterior fontanel Oligodontia Preaxial polydactyly Overlapping toe Bilateral talipes equinovarus Hypopituitarism Facial cleft Lipoma Widely spaced teeth Absence seizures Hemivertebrae Dystonia Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Generalized hypotonia Failure to thrive Feeding difficulties Absent speech Short palpebral fissure Prominent forehead Thin upper lip vermilion Deeply set eye Muscular hypotonia of the trunk Protruding ear Short philtrum Small for gestational age Neurological speech impairment Smooth philtrum Bifid uvula Round face Hypoplastic right heart



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