Hypertelorism, and Cerebellar hypoplasia

Diseases related with Hypertelorism and Cerebellar hypoplasia

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

Top matches:

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Other less relevant matches:

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Top 5 symptoms//phenotypes associated to Hypertelorism and Cerebellar hypoplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Short stature Cerebellar atrophy Hyperreflexia Nystagmus Apraxia Dysmetria Visual impairment Delayed speech and language development Polymicrogyria Ataxia Narrow forehead Wide nasal bridge Inability to walk Hypertonia Growth delay Hypoplasia of the corpus callosum Generalized-onset seizure

Rare Symptoms - Less than 30% cases

Failure to thrive Downturned corners of mouth Micrognathia Feeding difficulties Cerebral atrophy Macrotia Proteinuria Brachycephaly Stage 5 chronic kidney disease Intellectual disability, severe Oculomotor apraxia Muscular hypotonia Hypoplasia of the brainstem Renal agenesis Ventriculomegaly Tapered finger Nephrotic syndrome Glomerulosclerosis Focal segmental glomerulosclerosis Deeply set eye Intrauterine growth retardation Muscular hypotonia of the trunk Arachnodactyly Cleft palate Prominent forehead Lissencephaly Pachygyria Sloping forehead Agenesis of corpus callosum Atrial septal defect Myopia Anteverted nares Poor speech Molar tooth sign on MRI Arrhythmia Intestinal malrotation Dyskinesia Anal atresia Micropenis Pulmonic stenosis Short toe Hypothyroidism Respiratory tract infection Recurrent respiratory infections Abnormal heart morphology Plagiocephaly Cleft lip Toe walking Patent ductus arteriosus Panhypopituitarism Ventricular septal defect Cortical dysplasia Minimal change glomerulonephritis Growth hormone deficiency Oligohydramnios High palate Tachypnea Scoliosis Inferior vermis hypoplasia Ectopic posterior pituitary Central hypothyroidism Cone/cone-rod dystrophy Recurrent upper respiratory tract infections Bilateral ptosis Esotropia Downslanted palpebral fissures Cardiomegaly Talipes equinovarus Small hand Peripheral axonal neuropathy Abnormality of the foot Recurrent infections Wide mouth Kyphoscoliosis Hyporeflexia Single ventricle Tetraplegia Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Dysphagia Gait disturbance Posteriorly placed anus Peripheral neuropathy Everted lower lip vermilion Focal-onset seizure Situs inversus totalis Double outlet right ventricle Holoprosencephaly Dextrocardia Ciliary dyskinesia Transposition of the great arteries Abnormal lung lobation Spastic tetraplegia Waddling gait Myelomeningocele Common atrium Polysplenia Asplenia Duodenal atresia Pulmonary artery atresia Abdominal situs inversus Heterotaxy Biliary atresia Heterotopia Thick vermilion border Frontal bossing Brisk reflexes Unsteady gait Abnormal cerebellum morphology Hip dysplasia Status epilepticus Cerebral visual impairment Infantile muscular hypotonia Diffuse mesangial sclerosis Osteopenia Strabismus Dystonia Short nose Syndactyly Absent speech Encephalopathy EEG abnormality Gait ataxia Upslanted palpebral fissure Colpocephaly Postnatal growth retardation Prominent nasal bridge Intellectual disability, profound Lymphedema Prominent occiput Severe postnatal growth retardation Cavum septum pellucidum Osteoporosis Type I lissencephaly Thick cerebral cortex Bitemporal hollowing Cognitive impairment Dysarthria Optic atrophy Tremor Clinodactyly Mandibular prognathia Ptosis Round face Clinodactyly of the 5th finger Cerebral cortical atrophy Thin upper lip vermilion Abnormality of the pinna Synophrys Generalized myoclonic seizures Congenital hypothyroidism Epicanthus Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Obesity Decreased head circumference Sparse hair Abnormality of finger Hypermetropia Hirsutism Epileptic encephalopathy Low posterior hairline Narrow palpebral fissure Poor head control Mild microcephaly Limb hypertonia Thick hair Anteverted ears Flexion contracture Polyhydramnios Arthrogryposis multiplex congenita Bulbous nose Cortical gyral simplification Broad palm


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