Microcephaly, and Sloping forehead

Diseases related with Microcephaly and Sloping forehead

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Sloping forehead


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE; MCPH23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Intellectual disability, mild
  • Abnormality of the nervous system


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE; MCPH12

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Absent speech
  • Intellectual disability, moderate


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE; MCPH21

Other less relevant matches:

Related symptoms:

  • Seizures
  • Microcephaly
  • Cognitive impairment
  • Intellectual disability, severe
  • Retrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE; MCPH8

Lissencephaly-6 is an autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum (summary by Mishra-Gorur et al., 2014).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 6 WITH MICROCEPHALY; LIS6

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Primary microcephaly (MCPH) is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations below the age- and sex-matched population mean and mental retardation, with no other associated malformations and with no apparent etiology. Most cases of primary microcephaly show an autosomal recessive mode of inheritance (summary by Woods et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5

Top 5 symptoms//phenotypes associated to Microcephaly and Sloping forehead

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cortical gyral simplification Common - Between 50% and 80% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, moderate Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Delayed speech and language development Cerebellar hypoplasia Growth delay Limb hypertonia Polymicrogyria Agenesis of corpus callosum Hypertonia Partial agenesis of the corpus callosum Motor delay Neurological speech impairment Absent speech Intellectual disability, severe Cognitive impairment Global developmental delay Spasticity Cerebral atrophy Dyskinesia Muscular hypotonia of the trunk Babinski sign Small cerebral cortex Encephalopathy Dystonia Epileptic encephalopathy Cerebellar atrophy Visual impairment Feeding difficulties Generalized hypotonia Thick corpus callosum Bimanual synkinesia Chorea Involuntary movements Narrow forehead Hyperactivity Hypoplasia of the frontal lobes Highly arched eyebrow Attention deficit hyperactivity disorder Proptosis Cerebellar vermis hypoplasia Prominent glabella Hearing impairment Progressive microcephaly Extrapyramidal dyskinesia Opisthotonus Hypoplasia of the brainstem Poor suck Clonus Cortical dysplasia Impulsivity Lymphopenia Thick eyebrow Heterotopia Prominent nose Cleft lip Strabismus Ataxia Dilation of lateral ventricles Lissencephaly Pachygyria Lobar holoprosencephaly Severe global developmental delay Hyperreflexia Abnormal facial shape Retrognathia Abnormality of the nervous system Intellectual disability, mild Holoprosencephaly Anemia Synophrys Recurrent viral infections Aggressive behavior Micrognathia Hypertelorism Bird-like facies B lymphocytopenia Decrease in T cell count Recurrent bacterial infections Immunodeficiency Convex nasal ridge Decreased antibody level in blood Bulbous nose Autoimmunity Thrombocytopenia Recurrent infections Unilateral polymicrogyria


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