Intrauterine growth retardation, and Hypoplasia of the corpus callosum

Diseases related with Intrauterine growth retardation and Hypoplasia of the corpus callosum

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Hypoplasia of the corpus callosum that can help you solving undiagnosed cases.


Top matches:

High match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3


Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53


Autosomal recessive mental retardation-53 is a neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients. Some patients may have additional features, such as cerebellar hypoplasia and ataxia. MRT53 is one of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Makrythanasis et al., 2016).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53 Is also known as glycosylphosphatidylinositol biosynthesis defect 13|gpibd13

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53; MRT53

High match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

High match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

High match SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY


Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

High match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

High match HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1


Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

High match INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP


Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

High match AL KAISSI SYNDROME; ALKAS


Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Hypoplasia of the corpus callosum

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Intrauterine growth retardation and Hypoplasia of the corpus callosum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Wide nasal bridge Delayed speech and language development Generalized hypotonia Absent speech Long philtrum Low-set ears Ptosis Feeding difficulties Small hand Depressed nasal bridge Epicanthus Thin upper lip vermilion Short stature Pachygyria Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Atrial septal defect Downslanted palpebral fissures Lissencephaly Thick lower lip vermilion Abnormality of the pinna Hypertelorism Cortical dysplasia Heterotopia Hyperreflexia Short chin Abnormal corpus callosum morphology Dandy-Walker malformation Spastic tetraplegia Anteverted nares Cortical gyral simplification High palate Polymicrogyria Nystagmus Wide mouth Short philtrum Severe intrauterine growth retardation Hypertonia Strabismus Fulminant hepatic failure Basal ganglia cysts Acidosis Motor delay Hepatomegaly Spasticity Cryptorchidism Thick nasal alae Talipes equinovarus Increased CSF lactate Poor eye contact Progressive encephalopathy Encephalopathy Hypokinesia Respiratory insufficiency Global brain atrophy Decreased liver function Cholestasis Bradykinesia Increased serum lactate Delayed myelination Cardiomyopathy Lactic acidosis Muscular hypotonia of the trunk Vomiting Metabolic acidosis Camptodactyly Edema Narrow forehead Postnatal growth retardation Abnormal cardiac septum morphology Synophrys Smooth philtrum High, narrow palate Triangular face Broad nasal tip Broad-based gait Pes planus Decreased body weight Pointed chin Hemivertebrae Sacral dimple Deep palmar crease Macrodontia Malar rash Nevus flammeus of the forehead Telecanthus Brachycephaly Agenesis of corpus callosum Flat face Narrow mouth Gastroesophageal reflux Slender finger Blepharophimosis Broad forehead Abnormality of the cerebral white matter Joint hypermobility Downturned corners of mouth Posteriorly rotated ears Round face Bilateral ptosis Language impairment Vertebral fusion Delayed ability to walk Abnormal myelination Unilateral cryptorchidism Clinodactyly Dystrophic toenail Arachnodactyly Hypoplastic toenails Agenesis of cerebellar vermis Bowing of the long bones Renal dysplasia Molar tooth sign on MRI Occipital encephalocele Anencephaly Meningocele Bile duct proliferation Postaxial hand polydactyly Meningoencephalocele Micrognathia Agyria Intellectual disability, severe Hyperactivity Aggressive behavior Intellectual disability, moderate Encephalocele Renal cyst Decreased fetal movement Tetraplegia Severe muscular hypotonia EEG with focal spikes Hyporeflexia Cerebral atrophy Arthrogryposis multiplex congenita Ataxia Akinesia Postaxial polydactyly Fetal akinesia sequence Perisylvian polymicrogyria Cleft palate Ventricular septal defect Hydrocephalus Microphthalmia Polydactyly Sloping forehead Tetraparesis Sandal gap Coarse facial features Overlapping fingers Recurrent aphthous stomatitis Paraplegia Spastic paraplegia Recurrent infections Abnormal heart morphology Intellectual disability, profound Severe combined immunodeficiency Thick eyebrow Short distal phalanx of finger Wide nose Small nail Sparse scalp hair Long eyelashes Low anterior hairline Recurrent lower respiratory tract infections Severe vision loss Hemiparesis Visual impairment Spastic tetraparesis Impulsivity Maternal diabetes Schizencephaly Hearing impairment Sensorineural hearing impairment Immunodeficiency Combined immunodeficiency Prominent forehead Micropenis Deeply set eye Sepsis Brain atrophy Cerebellar vermis hypoplasia CNS hypomyelination Decreased head circumference



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Thick vermilion border, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more