Hypertelorism, and Coloboma

Diseases related with Hypertelorism and Coloboma

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


Top matches:

High match OCULOTRICHOANAL SYNDROME


Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

High match HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

High match COLOBOMA OF IRIS


Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of one or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). Genetic Heterogeneity of Ocular ColobomaA recessive form of ocular coloboma (OMIM ) is caused by mutation in the SALL2 gene (OMIM ) on chromosome 14q11.

COLOBOMA OF IRIS Is also known as coloboma of iris, choroid, and retina|coi|coloboma, uveoretinal

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLOBOMA OF IRIS

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Other less relevant matches:

High match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

High match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

High match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS 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

High match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

High match BARAITSER-WINTER SYNDROME 2; BRWS2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Coloboma

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Iris coloboma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Abnormal facial shape Ptosis High palate Midface retrusion Wide nasal bridge Cleft lip Hydrocephalus Short nose Telecanthus Short stature Oral cleft Agenesis of corpus callosum Seizures Thin upper lip vermilion Brachydactyly Short philtrum Epicanthus

Rare Symptoms - Less than 30% cases


Microcornea Short neck Cataract Hypotelorism Holoprosencephaly Trigonocephaly Single median maxillary incisor Failure to thrive Mandibular prognathia Arachnodactyly Glaucoma Abnormal oral frenulum morphology Hearing impairment Sensorineural hearing impairment Prominent nose Frontal bossing Growth delay Camptodactyly of finger Protruding ear Ventriculomegaly Highly arched eyebrow Small for gestational age Broad forehead Macrocephaly Narrow mouth Corneal opacity Hypoplasia of the maxilla Anal atresia Blepharophimosis Omphalocele Malar flattening Anal stenosis Micrognathia Eyelid coloboma Abnormality of the skeletal system Anteverted nares Macrotia Upslanted palpebral fissure Conductive hearing impairment Vaginal fistula Hernia Inguinal hernia Secretory diarrhea Localized skin lesion Abnormality of the eye Atrial septal defect Intractable diarrhea Trichorrhexis nodosa Feeding difficulties in infancy Toe clinodactyly Abnormal cardiac septum morphology Abnormality of metabolism/homeostasis Short toe Camptodactyly of toe Clinodactyly Abnormal hand bone ossification Abnormality of skin pigmentation Localized osteoporosis Camptodactyly Skeletal dysplasia Osteoporosis Ventricular septal defect Abnormal foot bone ossification Syndactyly Fibroma Mesomelic leg shortening Flexion contracture Low-set ears Mesomelic arm shortening Multiple joint contractures Hypomimic face Prominent nasal bridge Strabismus Wide nose Webbed neck Pachygyria Heterotopia Postnatal microcephaly Pointed chin Lissencephaly Long palpebral fissure Retinal coloboma Scoliosis Neoplasm Cryptorchidism Wide mouth Brachycephaly Carious teeth Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Arthrogryposis multiplex congenita Joint stiffness Cleft upper lip 2-3 toe syndactyly Thin vermilion border Bifid uvula Underdeveloped nasal alae Renal hypoplasia Short palpebral fissure Choanal atresia Renal dysplasia Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology Abnormality of vision Mixed hearing impairment Abnormality of the pinna External ear malformation Choanal stenosis Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Long philtrum Abnormal heart morphology Retrognathia Villous atrophy Depressed nasal tip Underdeveloped supraorbital ridges Nystagmus Deep philtrum Absent thumb Abnormality of digit Facial cleft Scaphocephaly Cyclopia Proboscis Small posterior fossa Exencephaly Spasticity Narrow forehead Hypertension Dilatation Reduced visual acuity Postnatal growth retardation Vesicoureteral reflux Aganglionic megacolon Aortic aneurysm Chorioretinal coloboma Increased intraocular pressure Exotropia Astigmatism Peters anomaly Abnormal hair pattern High forehead Broad nasal tip Ectodermal dysplasia Renal agenesis Amenorrhea Primary amenorrhea Abnormality of the hair Anophthalmia Anteriorly placed anus Bifid nasal tip Synophrys Vaginal atresia Broad columella Nasolacrimal duct obstruction Upper eyelid coloboma Cryptophthalmos Ablepharon Depressed nasal bridge Intellectual disability, severe Hypermetropia Optic nerve coloboma Remnants of the hyaloid vascular system Celiac disease Flat nasal alae Bilateral microphthalmos Median cleft lip and palate Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Generalized hypotonia Broad face Diarrhea Posteriorly rotated ears Hyperactivity Arthritis Abdominal distention Sepsis Sloping forehead Abnormal intestine morphology Long nose Panhypopituitarism Bilateral cleft lip and palate Morning glory anomaly Long fingers Optic nerve aplasia Downslanted palpebral fissures Behavioral abnormality Neonatal hypotonia Low-set, posteriorly rotated ears Autistic behavior Severe global developmental delay Toe syndactyly Interphalangeal joint contracture of finger Central apnea Bilateral cleft lip Small face Hand clenching Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Smooth philtrum Dental malocclusion Flat occiput Partial agenesis of the corpus callosum Median cleft lip Plantar pits



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Retrognathia, related diseases and genetic alterations Dysarthria and Facial asymmetry, related diseases and genetic alterations Intellectual disability, severe and Brain atrophy, related diseases and genetic alterations Macrocephaly and Muscular hypotonia of the trunk, related diseases and genetic alterations Flexion contracture and Choanal atresia, related diseases and genetic alterations

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