Hypertelorism, and Abnormality of the eye

Diseases related with Hypertelorism and Abnormality of the eye

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


Top matches:

Low match TRIGONOCEPHALY 2; TRIGNO2


Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011).For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (OMIM ).A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see {158170}).

TRIGONOCEPHALY 2; TRIGNO2 Is also known as craniosynostosis, metopic

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Craniosynostosis
  • Trigonocephaly
  • Metopic synostosis


SOURCES: OMIM MENDELIAN

More info about TRIGONOCEPHALY 2; TRIGNO2

Low match AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5


AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5 Is also known as agammaglobulinemia, autosomal dominant, due to lrrc8a defect

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • High palate
  • Epicanthus
  • Agammaglobulinemia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT; AGM5

Low match DIAMOND-BLACKFAN ANEMIA 8; DBA8


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Anemia
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 8; DBA8

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Other less relevant matches:

Low match CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS


Related symptoms:

  • Hypertelorism
  • Hydrocephalus
  • Encephalocele
  • Abnormality of the outer ear
  • Abnormal electroretinogram


SOURCES: OMIM MENDELIAN

More info about CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4


Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Low match ROBINOW-SORAUF SYNDROME


ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type|craniosynostosis-bifid hallux syndrome

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Malar flattening
  • Flat face
  • Plagiocephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ROBINOW-SORAUF SYNDROME

Low match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Low match BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR


Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

Low match BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Top 5 symptoms//phenotypes associated to Hypertelorism and Abnormality of the eye

Symptoms // Phenotype % cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Intellectual disability Rare - less than 30% cases
Motor delay Rare - less than 30% cases
Reduced number of teeth Rare - less than 30% cases
Epicanthus Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Agammaglobulinemia Short stature Depressed nasal bridge Wide nasal bridge Flat face Overlapping toe Rectal atresia Bifid nose Rectovaginal fistula Anteriorly placed anus Microcephaly Renal agenesis Bulbous nose Short philtrum Hypothyroidism Thin eyebrow Agenesis of permanent teeth Oligodontia Sparse eyelashes Low anterior hairline Abnormality of the kidney Facial asymmetry High forehead Abnormality of the skeletal system Dental crowding Thick lower lip vermilion Broad nasal tip Small for gestational age Intellectual disability, moderate Coarse facial features Kyphoscoliosis Prominent forehead Intellectual disability, mild Delayed speech and language development Cleft lip Scoliosis Generalized hypotonia Euryblepharon Ectropion of lower eyelids Distichiasis Conical tooth Ectropion Anal atresia Hypodontia Ectodermal dysplasia Narrow nose Thick vermilion border Macrocytic anemia Encephalocele Hydrocephalus Pure red cell aplasia Erythroid hypoplasia Reticulocytopenia Increased mean corpuscular volume Thick upper lip vermilion Neutropenia Abnormal electroretinogram Short nose Anemia Growth delay High palate Low-set ears Metopic synostosis Trigonocephaly Craniosynostosis Abnormality of the outer ear Anterior segment developmental abnormality Wide nose Malar flattening Downslanted palpebral fissures Duplication of phalanx of hallux Craniofacial dysostosis Shallow orbits Long nose Broad hallux Plagiocephaly Strabismus Posterior fossa cyst Decreased antibody level in blood Respiratory tract infection Recurrent respiratory infections Recurrent infections Immunodeficiency Global developmental delay Abnormal corneal endothelium morphology Anterior encephalocele Long foot



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