Microcephaly, and Strabismus

Diseases related with Microcephaly and Strabismus

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

Top matches:

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

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Nystagmus
  • Strabismus
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1; MRT1

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6

Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2F; PCH2F

MDDGB3 is an autosomal recessive congenital muscular dystrophy with mental retardation and mild brain abnormalities (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3 Is also known as muscular dystrophy, congenital, pomgnt1-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Strabismus
  • Motor delay
  • Myopia


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3; MDDGB3

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

NEDMEBA is an autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia (summary by Marin-Valencia et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY; NEDMEBA

Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx|mrx18|mental retardation, x-linked 78|mrx78|mental retardation, x-linked 18

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Microcephaly and Strabismus

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% 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
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Absent speech

Rare Symptoms - Less than 30% cases

Growth delay Motor delay Intellectual disability, severe Ventriculomegaly Abnormal facial shape Babinski sign Cerebellar hypoplasia Nystagmus Cerebral cortical atrophy Hypermetropia Ataxia Autistic behavior Cleft lip Plagiocephaly Myopia Optic atrophy Postnatal microcephaly Dilatation Elevated serum creatine phosphokinase Poor speech Muscular dystrophy Congenital muscular dystrophy Hypoplasia of the pons Cerebellar cyst Aggressive behavior Sloping forehead Prominent nose Behavioral abnormality Holoprosencephaly Cortical gyral simplification Lobar holoprosencephaly Neonatal hypotonia Macrotia Hypoplasia of the corpus callosum Progressive microcephaly Generalized-onset seizure Stereotypy Atrophy/Degeneration affecting the brainstem Brachycephaly Generalized tonic-clonic seizures Small cerebral cortex Inability to walk Failure to thrive Cleft palate Cryptorchidism Feeding difficulties Atrial septal defect Abnormality of the dentition Patent ductus arteriosus Thin vermilion border Coarctation of aorta Congenital hip dislocation Oligodontia Cognitive impairment EEG abnormality Hyperactive deep tendon reflexes Cerebral atrophy Muscular hypotonia of the trunk Coarse facial features Intellectual disability, profound Arachnoid cyst Appendicular hypotonia Hypertelorism Intellectual disability, moderate Joint stiffness Microtia Bifid nasal tip Spasticity Visual impairment Hyperreflexia Hypertonia Abnormality of the head


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