Epicanthus, and Abnormality of the nervous system

Diseases related with Epicanthus and Abnormality of the nervous system

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


Top matches:

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 PERRAULT SYNDROME 2; PRLTS2


Perrault syndrome-2 is an autosomal recessive disorder characterized by sensorineural deafness in both males and females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile (summary by Pierce et al., 2011).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Epicanthus
  • Infertility
  • Amenorrhea


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 2; PRLTS2

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

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Other less relevant matches:

Low match FRAXE INTELLECTUAL DISABILITY


FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.

FRAXE INTELLECTUAL DISABILITY Is also known as fraxe mental retardation syndrome|intellectual disability associated with fragile site fraxe

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRAXE INTELLECTUAL DISABILITY

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54


Early infantile epileptic encephalopathy-54 is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by de Kovel et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

Low match PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A


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

Low match DISTAL MONOSOMY 1Q


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

Top 5 symptoms//phenotypes associated to Epicanthus and Abnormality of the nervous system

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Epicanthus and Abnormality of the nervous system. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Prominent nasal bridge Myoclonus Obsessive-compulsive behavior EEG abnormality Absent speech Low-set ears Upslanted palpebral fissure Short stature Strabismus Agammaglobulinemia Feeding difficulties in infancy Visual field defect Deeply set eye Calcific stippling Micrognathia Encephalopathy Prominent forehead Ventriculomegaly Smooth philtrum Cerebral visual impairment Febrile seizures Optic disc pallor Tapered finger Protruding ear Thin vermilion border Reduced visual acuity Round face Anteverted nares Delayed myelination Epileptic encephalopathy Respiratory failure Cerebellar atrophy Hepatomegaly Delayed ability to walk Stereotypy Renal cyst Epiphyseal stippling Postnatal microcephaly Hypotelorism Inability to walk Downslanted palpebral fissures Status epilepticus Optic atrophy Atypical absence seizures Intellectual disability, borderline Atonic seizures Epicanthus inversus Absence seizures Generalized neonatal hypotonia Narrow palate Nonconvulsive status epilepticus Abnormality of coagulation Visual impairment Immunodeficiency Hyperactivity Abnormality of metabolism/homeostasis Intellectual disability, mild Behavioral abnormality Delayed speech and language development Decreased antibody level in blood Respiratory tract infection Recurrent respiratory infections Recurrent infections Motor delay Intellectual disability, moderate Furrowed tongue Severe sensorineural hearing impairment Severe hearing impairment Primary amenorrhea Amenorrhea Infertility Sensorineural hearing impairment Hearing impairment High palate Aggressive behavior Autistic behavior Nystagmus Lactic acidosis Increased serum pyruvate Ketosis Abnormality of mitochondrial metabolism Poor suck Hyperammonemia Tachypnea Decreased liver function Increased serum lactate Metabolic acidosis Abnormality of the liver Attention deficit hyperactivity disorder Elevated hepatic transaminase Hypoglycemia Acidosis Vomiting Feeding difficulties Cognitive impairment Impaired social interactions Agitation Impulsivity Aplasia/Hypoplasia of the corpus callosum



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