Epicanthus, and Recurrent infections

Diseases related with Epicanthus and Recurrent infections

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

Top matches:

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

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

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Other less relevant matches:

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 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
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

Low match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Recurrent infections

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Recurrent respiratory infections Respiratory tract infection Decreased antibody level in blood Agammaglobulinemia Growth delay Low-set ears High palate Feeding difficulties Generalized hypotonia Motor delay Depressed nasal bridge Failure to thrive Seizures Wide nasal bridge Spasticity Cryptorchidism

Rare Symptoms - Less than 30% cases

Delayed speech and language development Intrauterine growth retardation Scoliosis Upslanted palpebral fissure Myopia Short palpebral fissure Malabsorption Micrognathia Hearing impairment High forehead Flexion contracture Abnormality of the dentition Deeply set eye Polydactyly Retrognathia Anteverted nares Short nose Pneumonia Adducted thumb Oral-pharyngeal dysphagia Weak cry Fractures of the long bones Hepatomegaly Abnormality of the skeletal system Thrombocytopenia Clinodactyly of the 5th finger Brachycephaly Muscular ventricular septal defect Fasciculations Left-to-right shunt Hypothyroidism Abnormality of the nervous system Telecanthus Erythema Leukemia Lymphadenopathy Poor head control Inability to walk Decreased fetal movement Respiratory insufficiency Epiphyseal stippling Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Nystagmus Hyperreflexia Short neck Generalized muscle weakness Cerebellar atrophy Hypertonia Cerebral atrophy Hyporeflexia Respiratory failure Arthrogryposis multiplex congenita Abnormality of eye movement Thin vermilion border Endometriosis Hypoplasia of penis Lymphoma Camptodactyly Atrial septal defect Intellectual disability, mild Patent ductus arteriosus Low hanging columella Long nose Abnormal heart morphology Overlapping toe Unilateral renal agenesis Blepharophimosis Cleft palate Abnormal cardiac septum morphology Broad forehead Carious teeth Anal atresia Dental malocclusion Renal agenesis Recurrent urinary tract infections Pointed chin Horseshoe kidney Ventricular septal defect Large beaked nose Premature ovarian insufficiency Combined immunodeficiency Pancytopenia Type II diabetes mellitus Cutaneous photosensitivity Velopharyngeal insufficiency Telangiectasia Low anterior hairline Myelodysplasia Psoriasiform dermatitis Leukocytosis Telangiectasia of the skin Mild microcephaly Biparietal narrowing Severe combined immunodeficiency Acute leukemia Abnormality of chromosome stability Abnormality of bone marrow cell morphology Bird-like facies Congenital contracture Perimembranous ventricular septal defect High anterior hairline Short humerus Cellulitis Abnormality of pelvic girdle bone morphology Hyperactivity Strabismus Hypospadias Conductive hearing impairment Flat face Recurrent upper respiratory tract infections Tapetoretinal degeneration Hypoplastic ischia Long philtrum Narrow mouth Enlarged cisterna magna Thin upper lip vermilion Anxiety Attention deficit hyperactivity disorder Hypermetropia Unsteady gait Hypodontia Asthma Prominent nose Infra-orbital crease Molar tooth sign on MRI Hypsarrhythmia Absent speech Everted lower lip vermilion Round face Short chin Chronic bronchitis Ataxia Macrocephaly Downslanted palpebral fissures Frontal bossing Rod-cone dystrophy Deep philtrum EEG abnormality Feeding difficulties in infancy Polymicrogyria Hirsutism Postaxial polydactyly Thick vermilion border Intellectual disability, profound Cerebellar vermis hypoplasia Encephalocele Microdontia Narrow palpebral fissure Rhizomelia Crohn's disease Encephalitis Chronic otitis media Osteomyelitis Bronchitis Recurrent sinusitis External ear malformation Verrucae B lymphocytopenia Recurrent enteroviral infections Conjunctivitis Short stature Muscular hypotonia Cataract Intellectual disability, severe Severe short stature Osteopenia Congenital cataract Large fontanelles Recurrent skin infections Recurrent bacterial infections Oligodontia Skin rash Eosinophilia Myopathic facies Delayed ability to walk Thin eyebrow Fever Fatigue Diarrhea Arthritis Cough Recurrent pneumonia Neutropenia Sepsis Dehydration Hepatitis Recurrent otitis media Chronic diarrhea Bronchiectasis Sinusitis Meningitis Thin lower lip vermilion


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