Hypertelorism, and Epicanthus

Diseases related with Hypertelorism and Epicanthus

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

Top matches:

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Other less relevant matches:

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Motor delay
  • Epicanthus
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Top 5 symptoms//phenotypes associated to Hypertelorism and Epicanthus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Generalized hypotonia Agammaglobulinemia Motor delay Short stature Low-set ears

Rare Symptoms - Less than 30% cases

Wide nasal bridge Upslanted palpebral fissure Round face Epicanthus inversus Prominent forehead Absent speech Short nose Long philtrum Respiratory tract infection Immunodeficiency Recurrent infections Recurrent respiratory infections Strabismus Microcephaly Decreased antibody level in blood Severe short stature Intrauterine growth retardation Ptosis Panhypopituitarism Myelomeningocele Hypopituitarism Spina bifida occulta Adrenal insufficiency Intellectual disability, mild Spina bifida Aspiration Growth hormone deficiency Delayed puberty Synophrys Intellectual disability, moderate Coarse facial features Hypothyroidism Wide anterior fontanel Macrocephaly Premature posterior fontanelle closure Short chin Everted lower lip vermilion Retrognathia Pneumonia Anteverted nares Growth delay Aplasia/Hypoplasia of the frontal sinuses Prominent palatine ridges Absent/hypoplastic paranasal sinuses Frontal bossing Abnormality of the skull base Metopic synostosis Abnormality of the thyroid gland Internally nucleated skeletal muscle fibers Broad nasal tip Small for gestational age Abnormality of the kidney High forehead Posteriorly rotated ears Frog-leg posture Narrow palpebral fissure Functional respiratory abnormality Hepatomegaly Micrognathia Calcific stippling Generalized neonatal hypotonia Epiphyseal stippling Renal cyst Feeding difficulties in infancy Respiratory failure Delayed ability to walk Thin vermilion border Stereotypy Postnatal microcephaly Hypotelorism Inability to walk EEG abnormality Myoclonus Cerebellar atrophy Downslanted palpebral fissures Smooth philtrum Aplasia/Hypoplasia of the corpus callosum Centrally nucleated skeletal muscle fibers Narrow mouth Weak cry Myopathic facies Fasciculations Thickened skin Narrow forehead Lethargy Dolichocephaly Hyporeflexia Delayed speech and language development Sandal gap Pointed chin Downturned corners of mouth Wide mouth Aggressive behavior Hyperactivity Clinodactyly Obesity Chronic bronchitis


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