Hypertelorism, and Abnormality of cardiovascular system morphology

Diseases related with Hypertelorism and Abnormality of cardiovascular system morphology

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

Top matches:

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

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

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

Other less relevant matches:

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

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

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:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 18; AUTS18

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

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

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Abnormality of cardiovascular system morphology

Symptoms // Phenotype % cases
Wide nasal bridge Rare - less than 30% cases
Global developmental delay Rare - less than 30% cases
Intellectual disability Rare - less than 30% cases
Wide nose Rare - less than 30% cases
Erythroid hypoplasia Rare - less than 30% cases

Other less frequent symptoms

Patients with Hypertelorism and Abnormality of cardiovascular system morphology. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Reticulocytopenia Increased mean corpuscular volume Depressed nasal bridge Macrocytic anemia Downslanted palpebral fissures Abnormal facial shape Anemia Short stature Agammaglobulinemia Epicanthus Low-set ears Growth delay Prominent supraorbital ridges Tall stature Pointed chin Duplication of phalanx of hallux Craniofacial dysostosis Narrow nose Broad hallux Shallow orbits Long nose Plagiocephaly Flat face Strabismus Malar flattening Microcephaly Sparse eyelashes Thick vermilion border Short philtrum Bifid nose Rectovaginal fistula Anteriorly placed anus Overlapping toe Renal agenesis Bulbous nose Abnormality of the kidney Hypodontia Thin eyebrow Agenesis of permanent teeth Reduced number of teeth Oligodontia Low anterior hairline Ectodermal dysplasia Sleep disturbance Seizures Autistic behavior Anterior encephalocele Craniosynostosis Trigonocephaly Metopic synostosis High palate Short nose Neutropenia Thick upper lip vermilion Pure red cell aplasia Hydrocephalus Encephalocele Abnormality of the outer ear Abnormal electroretinogram Anterior segment developmental abnormality Posterior fossa cyst Abnormal corneal endothelium morphology Anxiety Motor delay Immunodeficiency Recurrent infections Recurrent respiratory infections Respiratory tract infection Decreased antibody level in blood Ventricular septal defect Hypospadias Leukopenia Macrocephaly Atrial septal defect Constipation Autism Pes planus Rectal atresia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Lymphoma and Stage 5 chronic kidney disease, related diseases and genetic alterations Hydrocephalus and Sepsis, related diseases and genetic alterations Cardiomyopathy and Abnormality of mitochondrial metabolism, related diseases and genetic alterations Spasticity and Hypospadias, related diseases and genetic alterations Growth delay and Cutaneous photosensitivity, related diseases and genetic alterations Hearing impairment and Hip dysplasia, related diseases and genetic alterations