Hypertelorism, and Microcornea

Diseases related with Hypertelorism and Microcornea

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

Top matches:

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

Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-MICROCEPHALY-NEVUS FLAMMEUS SIMPLEX-SEVERE INTELLECTUAL DISABILITY SYNDROME

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION 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

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL 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

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

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

Top 5 symptoms//phenotypes associated to Hypertelorism and Microcornea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Coloboma Cataract Cleft palate Iris coloboma Hydrocephalus Epicanthus Micrognathia Nystagmus Strabismus Upslanted palpebral fissure Ventriculomegaly Abnormal facial shape Preaxial hand polydactyly Short palpebral fissure Optic nerve coloboma Seizures Wide nasal bridge Hypospadias Cryptorchidism Agenesis of corpus callosum Short stature Blepharophimosis

Rare Symptoms - Less than 30% cases

Depressed nasal bridge Preaxial polydactyly High palate Postnatal growth retardation Low-set ears Hearing impairment Astigmatism Anal stenosis Abnormality of the pinna Microdontia Polydactyly Midface retrusion Talipes Toe syndactyly Finger syndactyly Conductive hearing impairment Intestinal malrotation Accessory spleen Everted lower lip vermilion Growth delay Downslanted palpebral fissures Glaucoma Dilatation Vesicoureteral reflux Aganglionic megacolon Chorioretinal coloboma Peters anomaly Sclerocornea Generalized hypotonia Spasticity Scoliosis Abnormality of the skeletal system Kyphosis Low-set, posteriorly rotated ears Short philtrum Hydronephrosis Hypoplasia of the corpus callosum Ectopia pupillae Short columella Bilateral renal hypoplasia Hypoplastic iris stroma Cerebellar vermis hypoplasia Renal hypoplasia Jejunal atresia Intestinal atresia Sex reversal Retinal vascular tortuosity Duodenal atresia Corneal astigmatism Prominent nose Optic nerve hypoplasia Multicystic kidney dysplasia Malabsorption Pancreatic cysts Aplasia/Hypoplasia of the corpus callosum Anophthalmia Anencephaly Male pseudohermaphroditism Postaxial foot polydactyly Situs inversus totalis Asplenia Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Aplasia/Hypoplasia of the iris Prominent nasal bridge Abnormal chorioretinal morphology Urethral atresia Aplasia/Hypoplasia of the tongue True hermaphroditism Lobar holoprosencephaly Cystic liver disease Cognitive impairment Myopathy Cerebellar hypoplasia Deeply set eye Wide mouth Pancreatic fibrosis Medulloblastoma Syndactyly Slurred speech Mandibular prognathia Umbilical hernia Thin upper lip vermilion Telecanthus Anal atresia Confusion Hypodontia Hypoplasia of the maxilla Growth hormone deficiency Choanal atresia Hypoplasia of dental enamel Reduced number of teeth Prominent supraorbital ridges Visual loss Myotonia Abnormality of dental morphology Aniridia Megalocornea Posterior embryotoxon Hypoplasia of the iris Anterior synechiae of the anterior chamber Abnormality of the abdominal wall Rieger anomaly Polycoria Bilateral choanal atresia Axenfeld anomaly Inguinal hernia Hernia Brachycephaly Basal cell carcinoma Carcinoma Craniosynostosis Facial asymmetry Polymicrogyria Hirsutism Abnormality of the skin Broad thumb Horizontal nystagmus Generalized hirsutism Narrow palpebral fissure Hypopigmented skin patches Bilateral ptosis Aplasia/Hypoplasia of the skin Abnormality of the dentition Cutaneous finger syndactyly Foot polydactyly Arnold-Chiari type I malformation Chronic constipation Encephalocele Anterior plagiocephaly Cutaneous syndactyly of toes Hemimegalencephaly Duplication of thumb phalanx Abnormality of thumb phalanx Muscle weakness Blindness Bowing of the long bones Short thumb Depressed nasal ridge Short nose Sacral dimple Anosmia Preauricular pit External ear malformation Abnormality of the hypothalamus-pituitary axis Spherocytosis Supernumerary ribs Macrocephaly Anteverted nares Intellectual disability, severe Macrotia Hypogonadotrophic hypogonadism Broad forehead Hypermetropia Synophrys Oral cleft Narrow forehead Hypotelorism Exotropia Holoprosencephaly Deep philtrum Trigonocephaly Absent thumb Azoospermia Hypoplasia of penis Facial cleft Congenital cataract Hypertension Reduced visual acuity Corneal opacity Aortic aneurysm Increased intraocular pressure Remnants of the hyaloid vascular system Morning glory anomaly Optic nerve aplasia Sparse hair Abnormal cardiac septum morphology Nevus Mitral valve prolapse Tented upper lip vermilion Sparse eyebrow Nevus flammeus Feeding difficulties Talipes equinovarus Atrial septal defect Splenomegaly Patent ductus arteriosus Hypogonadism Hemolytic anemia Retinal dystrophy Abnormality of digit Scaphocephaly Ambiguous genitalia Optic disc hypoplasia Triphalangeal thumb Hypoplasia of the ulna Vertebral segmentation defect Vertebral fusion Short humerus Aplasia/Hypoplasia of the radius Short hallux Broad hallux phalanx Abnormality of the thumb Bladder diverticulum Abnormality of the radius Sandal gap Radial club hand Crossed fused renal ectopia Short distal phalanx of the thumb Renal malrotation Optic atrophy Abnormality of cardiovascular system morphology Full cheeks Dandy-Walker malformation Postaxial hand polydactyly Sloping forehead Oligohydramnios Renal hypoplasia/aplasia Horseshoe kidney Single median maxillary incisor Pes planus Cyclopia Proboscis Small posterior fossa Exencephaly Delayed speech and language development Motor delay Short neck Pectus excavatum Posteriorly rotated ears Narrow mouth Osteopenia Microtia Tetralogy of Fallot Carious teeth Flat face Short palm Tapered finger Wide intermamillary distance Scrotal hypoplasia Overfolded helix Broad neck Ureterocele Sensorineural hearing impairment Visual impairment Abnormally prominent line of Schwalbe


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