Hypertelorism, and Telecanthus

Diseases related with Hypertelorism and Telecanthus

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

Top matches:

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

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 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

Other less relevant matches:

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

Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see {193510}) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008). Genetic Heterogeneity of All Types of Waardenburg SyndromeWaardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (OMIM ) for a discussion of genetic heterogeneity of WS type 2, and WS4A (OMIM ) for a discussion of genetic heterogeneity of WS type 4.

WAARDENBURG SYNDROME, TYPE 1; WS1 Is also known as waardenburg syndrome with dystopia canthorum

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Mandibular prognathia


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 1; WS1

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Top 5 symptoms//phenotypes associated to Hypertelorism and Telecanthus

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Wide nasal bridge Agenesis of corpus callosum Upslanted palpebral fissure Oral cleft Low-set ears Frontal bossing Scoliosis Blepharophimosis Clinodactyly Depressed nasal bridge Sensorineural hearing impairment Ventriculomegaly Growth delay Abnormal facial shape

Rare Symptoms - Less than 30% cases

Seizures Congenital sensorineural hearing impairment Camptodactyly Thin upper lip vermilion Coloboma Narrow mouth Downslanted palpebral fissures Wide nose Highly arched eyebrow Abnormal heart morphology Camptodactyly of finger Abnormality of skin pigmentation Abnormality of the pinna Smooth philtrum Underdeveloped nasal alae Synophrys Generalized hypotonia Microphthalmia Brachycephaly Delayed speech and language development Micrognathia Global developmental delay Cryptorchidism Brachydactyly Hydrocephalus Short stature Flexion contracture Malar flattening Iris coloboma Mandibular prognathia Toe clinodactyly Vesicoureteral reflux Localized osteoporosis Osteoporosis Abnormal hand bone ossification Intestinal malrotation Abnormal foot bone ossification Localized skin lesion Mesomelic leg shortening Mesomelic arm shortening Camptodactyly of toe Abnormal oral frenulum morphology Multiple joint contractures Fibroma Anal stenosis Preauricular skin tag Short toe Syndactyly Skeletal dysplasia Horseshoe kidney Biparietal narrowing Prominent metopic ridge Optic disc hypoplasia Exaggerated cupid's bow Cleft palate Abnormality of the skeletal system Midface retrusion Ulnar deviation of the wrist Short nose Joint stiffness Mild microcephaly Periventricular leukomalacia Small cerebral cortex Aplasia of the inferior half of the cerebellar vermis Short neck Long philtrum Retrognathia Cleft lip Wide mouth Curly hair Arthrogryposis multiplex congenita Webbed neck Pachygyria Heterotopia Postnatal microcephaly Pointed chin Lissencephaly Trigonocephaly Long palpebral fissure Delayed ability to walk Abnormality of digit Flat face Lacrimal duct atresia High, narrow palate Hypoplasia of the maxilla Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Ulnar deviation of finger Abnormality of the wrist Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Joint hypermobility Generalized tonic-clonic seizures Aplasia/Hypoplasia involving the nose Limited wrist movement Spasticity Feeding difficulties Ventricular septal defect Atrial septal defect Posteriorly rotated ears Short philtrum Thin vermilion border Blue irides Abnormal cardiac septum morphology Craniosynostosis Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Umbilical hernia Hyperlordosis Postnatal growth retardation Hip dislocation Vertebral fusion Downturned corners of mouth Spina bifida occulta Radioulnar synostosis Bilateral cryptorchidism Supernumerary nipple Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Abnormality of the neck Melanocytic nevus Caudal appendage Esotropia Failure to thrive Cognitive impairment Behavioral abnormality Prominent forehead Hyperactivity Hypothyroidism Aggressive behavior Delayed myelination Growth hormone deficiency Hemivertebrae Neurodevelopmental delay Neoplasm Cataract Glaucoma Carious teeth Arachnodactyly Cerebral calcification Hypogonadotrophic hypogonadism Epicanthus inversus Large fleshy ears High forehead Supernumerary ribs Aganglionic megacolon Spina bifida Premature graying of hair Sprengel anomaly Myelomeningocele Heterochromia iridis White forelock Hypopigmentation of the fundus Partial albinism Thick eyebrow White eyelashes White eyebrow Hypoplastic iris stroma Aplasia of the vagina Supernumerary vertebrae Muscular hypotonia High palate Intellectual disability, severe Hypopigmentation of the skin Prominent nasal bridge Limited pronation/supination of forearm Intellectual disability, moderate Prominent coccyx Nystagmus Intrauterine growth retardation Anteverted nares Abnormality of the dentition Intellectual disability, mild Alopecia Hypogonadism Oligohydramnios Bifid nose Fine hair Encephalocele Scrotal hypoplasia Coronal craniosynostosis Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Retinal coloboma


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