Microcephaly, and Esotropia

Diseases related with Microcephaly and Esotropia

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

Top matches:

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.

X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME Is also known as maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY MICROCEPHALY

COXPD35 is an autosomal recessive disorder characterized mainly by global developmental delay with intellectual disability, microcephaly, and early-onset myoclonic and other types of seizures. Affected individuals have variable deficiencies of mitochondrial respiratory enzyme complexes resulting from a defect in mitochondrial metabolism (summary by Kernohan et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35; COXPD35

Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

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

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Esotropia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microcephaly and Esotropia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Cerebellar hypoplasia Feeding difficulties Spasticity Failure to thrive Seizures Strabismus

Rare Symptoms - Less than 30% cases

Pes cavus Hypertelorism Cognitive impairment Upslanted palpebral fissure Hypermetropia Intrauterine growth retardation Absent speech Broad-based gait Visual impairment Delayed speech and language development Myopia Hypoplasia of the corpus callosum Cerebral atrophy Hypoplasia of the brainstem Abnormal facial shape Polymicrogyria Intellectual disability, moderate Microphthalmia Microcornea Motor delay Ventriculomegaly Hyperreflexia Dysmetria Horseshoe kidney Gastroesophageal reflux Cerebral visual impairment Postnatal microcephaly Involuntary movements Hypertrichosis Chorea Astigmatism Poor speech Abnormality of the foot T-cell acute lymphoblastic leukemias Arthrogryposis multiplex congenita Severe global developmental delay Muscular hypotonia of the trunk Gait ataxia Cleft palate Scoliosis Talipes equinovarus Dysphagia Cryptorchidism Flexion contracture Atrial septal defect Anteriorly placed anus Abnormality of the dentition Patent ductus arteriosus Autistic behavior Optic disc hypoplasia Thin vermilion border Generalized myoclonic seizures Talipes valgus Micrognathia Acute leukemia Hydrocephalus Bone marrow hypocellularity Cafe-au-lait spot Short thumb Renal hypoplasia Anal atresia Corneal opacity Leukemia Chromosome breakage Breast carcinoma Peters anomaly Medulloblastoma EEG abnormality Chromosomal breakage induced by crosslinking agents Anemia High palate Neoplasm Minimal change glomerulonephritis Myelodysplasia Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Narrow forehead Stage 5 chronic kidney disease Arachnodactyly Proteinuria Cerebellar atrophy Lipoma Acute myeloid leukemia Abnormal cardiac septum morphology Oligodontia Cerebral cortical atrophy Exotropia Prominent forehead Behavioral abnormality Epicanthus Depressed nasal bridge Polymicrogyria, anterior to posterior gradient Frontoparietal polymicrogyria Cerebral dysmyelination Perisylvian polymicrogyria Nonprogressive cerebellar ataxia Type II lissencephaly Ankle clonus Congenital muscular dystrophy Lissencephaly Truncal ataxia Pachygyria Hypothyroidism Abnormal cerebellum morphology Muscular dystrophy Abnormal pyramidal sign Babinski sign Hypertonia Intellectual disability, severe Ataxia Anteverted ears Diastema Pendular nystagmus Coloboma Abnormality of the pinna Kyphoscoliosis Ptosis Hyperactivity Aggressive behavior Diabetes mellitus Malar flattening Myoclonus Encephalopathy Dystonia Alternating esotropia Small forehead Overbite Broad hallux Reduced number of teeth Horizontal nystagmus Broad thumb Hypotelorism Sloping forehead Protruding ear Abnormality of the nervous system Tiger tail banding Telecanthus Mild intrauterine growth retardation Long-tract signs Slow-growing hair Coronal craniosynostosis Brittle hair Coxa valga Bilateral sensorineural hearing impairment Ichthyosis Dry skin Small for gestational age Delayed skeletal maturation Neurodevelopmental delay Growth hormone deficiency Delayed myelination Coarctation of aorta


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