Hypertelorism, and Microphthalmia

Diseases related with Hypertelorism and Microphthalmia

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

Top matches:

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

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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

Other less relevant matches:

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

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 2; BRWS2

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Top 5 symptoms//phenotypes associated to Hypertelorism and Microphthalmia

Symptoms // Phenotype % cases
Coloboma Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Agenesis of corpus callosum Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Iris coloboma High palate Anteverted nares Cataract Abnormal facial shape Microcornea Cleft palate Upslanted palpebral fissure Hydrocephalus Seizures Ventriculomegaly Short nose Frontal bossing Depressed nasal bridge Nystagmus Oral cleft Wide nasal bridge Thin upper lip vermilion

Rare Symptoms - Less than 30% cases

Single median maxillary incisor Trigonocephaly Corneal opacity Astigmatism Holoprosencephaly Prominent nose Abnormality of the pinna Underdeveloped nasal alae Telecanthus Toe syndactyly Wide mouth Postnatal microcephaly Highly arched eyebrow Intestinal malrotation Low-set ears Short neck Long philtrum Polydactyly Hypotelorism Anal stenosis Broad forehead Macrotia Midface retrusion Cleft lip Brachycephaly Macrocephaly Peters anomaly Preaxial polydactyly High forehead Optic nerve coloboma Epicanthus Downslanted palpebral fissures Short philtrum Omphalocele Growth delay Broad face Arthrogryposis multiplex congenita Wide nose Webbed neck Pachygyria Pointed chin Heterotopia Smooth philtrum Protruding ear Parietal bossing Panhypopituitarism Bilateral cleft lip and palate Bilateral microphthalmos Median cleft lip and palate Depressed nasal tip Midline defect of the nose Bilateral cleft lip Median cleft lip Partial agenesis of the corpus callosum Flat occiput Semilobar holoprosencephaly Joint stiffness Dental malocclusion Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Short stature Hearing impairment Sensorineural hearing impairment Abnormal heart morphology Retrognathia Alobar holoprosencephaly Hirsutism Lissencephaly Short palpebral fissure Abnormality of thumb phalanx Micrognathia Cognitive impairment Myopathy Cerebellar hypoplasia Deeply set eye Hydronephrosis Prominent nasal bridge Malabsorption Cerebellar vermis hypoplasia Renal hypoplasia Optic nerve hypoplasia Hemimegalencephaly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Intestinal atresia Accessory spleen Retinal vascular tortuosity Bilateral renal hypoplasia Hypoplastic iris stroma Jejunal atresia Duplication of thumb phalanx Cutaneous syndactyly of toes Long palpebral fissure Horizontal nystagmus Retinal coloboma Syndactyly Carcinoma Craniosynostosis Blepharophimosis Finger syndactyly Facial asymmetry Polymicrogyria Bullet-shaped distal phalanx of the hallux Abnormality of the skin Broad thumb Generalized hirsutism Anterior plagiocephaly Narrow palpebral fissure Hypopigmented skin patches Bilateral ptosis Preaxial hand polydactyly Basal cell carcinoma Aplasia/Hypoplasia of the skin Cutaneous finger syndactyly Foot polydactyly Arnold-Chiari type I malformation Chronic constipation Medulloblastoma Brachydactyly Aortic aneurysm Abnormality iris morphology Adducted thumb Sparse hair Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Aciduria Infantile muscular hypotonia Tented upper lip vermilion Strabismus Dystonia Cryptorchidism Intrauterine growth retardation Abnormality of the dentition Intellectual disability, mild Alopecia Hypogonadism Intellectual disability, moderate Oligohydramnios Fine hair Acidosis Hypoplasia of the corpus callosum Scrotal hypoplasia Anteriorly placed anus Narrow mouth Hypoplasia of the maxilla Broad nasal tip Ectodermal dysplasia Renal agenesis Amenorrhea Primary amenorrhea Abnormality of the hair Anophthalmia Eyelid coloboma Feeding difficulties Abnormal hair pattern Bifid nasal tip Vaginal atresia Broad columella Nasolacrimal duct obstruction Upper eyelid coloboma Cryptophthalmos Ablepharon Generalized hypotonia Muscular hypotonia Encephalocele Coronal craniosynostosis Abnormal oral frenulum morphology Neonatal hypotonia Vesicoureteral reflux Aganglionic megacolon Chorioretinal coloboma Increased intraocular pressure Remnants of the hyaloid vascular system Morning glory anomaly Optic nerve aplasia Failure to thrive Behavioral abnormality Low-set, posteriorly rotated ears Reduced visual acuity Autistic behavior Camptodactyly of finger Small for gestational age Severe global developmental delay Arachnodactyly Interphalangeal joint contracture of finger Long fingers Central apnea Small face Hand clenching Postnatal growth retardation Glaucoma Calvarial skull defect Exotropia Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Abnormality of the skeletal system Intellectual disability, severe Hypermetropia Synophrys Narrow forehead Deep philtrum Dilatation Absent thumb Abnormality of digit Facial cleft Scaphocephaly Cyclopia Proboscis Small posterior fossa Exencephaly Spasticity Hypertension Corneal astigmatism


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