Intellectual disability, and Sloping forehead

Diseases related with Intellectual disability and Sloping forehead

In the following list you will find some of the most common rare diseases related to Intellectual disability 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

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

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

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

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3

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

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Top 5 symptoms//phenotypes associated to Intellectual disability and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cortical gyral simplification Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, moderate Global developmental delay Cerebellar hypoplasia Delayed speech and language development Prominent nose Proptosis

Rare Symptoms - Less than 30% cases

Neurological speech impairment Ventriculomegaly Agenesis of corpus callosum Hypoplasia of the corpus callosum Cerebellar atrophy Hearing impairment Absent speech Aggressive behavior Small cerebral cortex Micrognathia Intellectual disability, severe Hypertelorism Strabismus Generalized hypotonia Severe postnatal growth retardation Prominent nasal bridge Atrial septal defect Prominent occiput Lissencephaly Hypertonia Lymphedema Colpocephaly Pachygyria Postnatal growth retardation Intellectual disability, profound Generalized-onset seizure Visual impairment Cavum septum pellucidum Cerebral atrophy Hypoplasia of the brainstem Optic nerve hypoplasia Optic disc pallor Microcornea Retinopathy Severe short stature Microphthalmia Type I lissencephaly Optic atrophy Intrauterine growth retardation Hyperreflexia Cataract Bitemporal hollowing Thick cerebral cortex Myopia Prominent glabella Nystagmus Hyperactivity Intellectual disability, mild Abnormality of the nervous system Cognitive impairment Retrognathia Ataxia Cleft lip Holoprosencephaly Lobar holoprosencephaly Synophrys Thick eyebrow Cerebellar vermis hypoplasia Impulsivity Bimanual synkinesia Motor delay Attention deficit hyperactivity disorder Severe sensorineural hearing impairment Polymicrogyria Highly arched eyebrow Narrow forehead Cortical dysplasia Partial agenesis of the corpus callosum Hypoplasia of the frontal lobes Thick corpus callosum Unilateral polymicrogyria Sensorineural hearing impairment Muscular hypotonia Behavioral abnormality Cafe-au-lait spot Progressive microcephaly Widely spaced teeth Macular atrophy


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Bradycardia, related diseases and genetic alterations Congestive heart failure and Cerebellar atrophy, related diseases and genetic alterations Edema and Spinal muscular atrophy, related diseases and genetic alterations Edema and Lactic acidosis, related diseases and genetic alterations Spasticity and Toe syndactyly, related diseases and genetic alterations Spasticity and Sparse hair, related diseases and genetic alterations