Cryptorchidism, and Dental malocclusion

Diseases related with Cryptorchidism and Dental malocclusion

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


Top matches:

High match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

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 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

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Other less relevant matches:

High match ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME


Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

High match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

High match RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY


Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

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

High match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

High match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

High match HOLOPROSENCEPHALY 9; HPE9


Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Top 5 symptoms//phenotypes associated to Cryptorchidism and Dental malocclusion

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Abnormal facial shape Wide nasal bridge Micrognathia Ventricular septal defect Midface retrusion Microphthalmia Epicanthus Macrocephaly Global developmental delay Cleft palate Abnormality of the dentition Micropenis Downslanted palpebral fissures Cleft lip Hernia Umbilical hernia Scoliosis Wide mouth Myopia Broad thumb Cataract High palate Conductive hearing impairment Malar flattening Low-set ears Wide intermamillary distance Encephalocele Agenesis of permanent teeth Anophthalmia

Rare Symptoms - Less than 30% cases


Visual impairment Dental crowding Lacrimal duct stenosis Overlapping toe Long nose Reduced number of teeth Camptodactyly Gingival overgrowth Low hanging columella High forehead Proptosis Clinodactyly Preauricular skin tag Long philtrum Short phalanx of finger Respiratory distress Scrotal hypoplasia Anteverted nares Mesomelia Anal atresia Carious teeth Choanal atresia Retrognathia Hypoplasia of the maxilla Iris coloboma Intellectual disability, mild Coloboma Patent ductus arteriosus Abnormal heart morphology Hypospadias Upslanted palpebral fissure Short nose Microtia Pulmonary hypoplasia Pulmonic stenosis Long eyelashes Blepharophimosis Atresia of the external auditory canal Hypoplasia of penis Sensorineural hearing impairment Thick lower lip vermilion Renal hypoplasia Telecanthus Webbed neck Low-set, posteriorly rotated ears Frontal bossing High anterior hairline Patent foramen ovale Oral cleft Atrial septal defect Short neck Ptosis Brachydactyly Abnormality of cardiovascular system morphology Cleft upper lip Toe syndactyly Finger syndactyly Vaginal atresia Blindness Hypoplastic right heart Malformed lacrimal duct Strabismus Feeding difficulties Respiratory insufficiency Anteriorly placed anus Tricuspid regurgitation Visual loss Pulmonary artery atresia Lacrimal duct aplasia Underdeveloped nasal alae External ear malformation Bicornuate uterus Narrow mouth Bifid tongue Abnormal vagina morphology Ectopic anus Calvarial skull defect Subglottic stenosis Tracheal stenosis Myelomeningocele Abnormal lung lobation Anal stenosis Midline nasal groove Laryngeal stenosis Abnormality of the middle ear Vertebral segmentation defect Female pseudohermaphroditism Urethral atresia Multicystic kidney dysplasia Cryptophthalmos Cleft ala nasi Omphalocele Ambiguous genitalia Wide pubic symphysis Abnormal hair pattern Projection of scalp hair onto lateral cheek Apnea Anterior pituitary hypoplasia Hemivertebrae Holoprosencephaly Optic nerve hypoplasia Heart murmur Neurodevelopmental delay Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Skin tags Bilateral cleft lip and palate Abnormal cortical gyration Large forehead Panhypopituitarism Median cleft lip and palate Hypotelorism Wide cranial sutures Single median maxillary incisor Semilobar holoprosencephaly Prominent antihelix Alobar holoprosencephaly Thoracic hemivertebrae Hypoplasia of the premaxilla Underdeveloped tragus Single naris Short hard palate Anterior pituitary agenesis Agenesis of incisor Asymmetric ventricles Coarctation of aorta Sloping forehead Protruding ear Lower eyelid coloboma Sparse eyelashes Abnormality of the outer ear Sleep apnea Glossoptosis Obstructive sleep apnea Choanal stenosis Abnormality of the nose Cleft soft palate Anotia Bilateral microphthalmos Accessory spleen Mandibulofacial dysostosis Upper eyelid coloboma Sparse lower eyelashes Postaxial hand polydactyly Ectopic adrenal gland Widely spaced primary teeth Downturned corners of mouth Hypoplasia of the pharynx Abnormal parotid gland morphology Seizures Hydrocephalus Agenesis of corpus callosum Polydactyly Macrotia Short philtrum Postaxial polydactyly Growth hormone deficiency Blue sclerae Recurrent urinary tract infections Kyphosis Thickened calvaria Abnormality of the skeletal system Severe short stature Skeletal dysplasia Thin upper lip vermilion Short distal phalanx of finger Otitis media Overgrowth Limb undergrowth Increased bone mineral density Oligodontia Chronic otitis media Depressed nasal tip Aplasia/Hypoplasia of the nipples Generalized osteosclerosis Narrow naris Triangular mouth Mesomelic short stature Narrow nasal tip Otitis media with effusion Edema Inguinal hernia Hypogonadism Corneal opacity Muscular dystrophy Chordee Hypoplastic nipples Delayed puberty Pectus excavatum of inferior sternum Posteriorly rotated ears Polyhydramnios Hypertrophic cardiomyopathy Sparse and thin eyebrow Sparse eyebrow Cubitus valgus Bilateral cryptorchidism Abnormality of coagulation Prolonged bleeding time Curly hair Blue irides Intellectual disability, severe Telangiectasia of the skin Renal insufficiency Hypothyroidism Proteinuria Intellectual disability, moderate Stage 5 chronic kidney disease Everted lower lip vermilion Pancytopenia Renal dysplasia Telangiectasia Abnormal dermatoglyphics Bifid scrotum Congenital sensorineural hearing impairment Synophrys Broad nasal tip Posterior helix pit Genu valgum Thin lower lip vermilion Growth delay Failure to thrive Cognitive impairment Delayed speech and language development Intrauterine growth retardation Syndactyly Delayed skeletal maturation Autism Postnatal growth retardation Autistic behavior Hirsutism Left-to-right shunt Highly arched eyebrow Premature birth Intestinal malrotation Prominent nose Convex nasal ridge Narrow palate Delayed gross motor development Broad hallux Preeclampsia Overbite Pes valgus Mild myopia Muscular ventricular septal defect Endometriosis Primary amenorrhea Frontal encephalocele Hypogonadotrophic hypogonadism Anosmia Limb-girdle muscular dystrophy Preauricular pit Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Aplasia of the nose Velopharyngeal insufficiency Absent paranasal sinuses Deeply set eye Abnormal cardiac septum morphology Broad forehead Renal agenesis Short palpebral fissure Pointed chin Horseshoe kidney Premature ovarian insufficiency Unilateral renal agenesis Mild microcephaly Perimembranous ventricular septal defect Diastolic heart murmur



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