Intellectual disability, and Broad forehead

Diseases related with Intellectual disability and Broad forehead

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

Top matches:

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Other less relevant matches:

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Poor speech Uncommon - Between 30% and 50% cases
Hyperactivity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Downslanted palpebral fissures Generalized hypotonia Fine hair Short nose Astigmatism Depressed nasal bridge High palate Abnormal facial shape Strabismus Midface retrusion

Rare Symptoms - Less than 30% cases

Frontal bossing Seizures Postnatal macrocephaly Long face Deeply set eye Cognitive impairment Hypermetropia Intellectual disability, severe Sparse hair Short philtrum Delayed gross motor development Short stature Dolichocephaly Pulmonic stenosis Mitral valve prolapse Myopia Hydrocephalus Coarse facial features Scaphocephaly Anteverted nares Language impairment Low-set ears Delayed myelination Autism Proptosis Microcephaly Micrognathia Feeding difficulties Wide nasal bridge Prominent nose Failure to thrive Delayed speech and language development Obesity Behavioral abnormality Broad nasal tip Attention deficit hyperactivity disorder Deep philtrum Patellar subluxation Single median maxillary incisor Atrial septal defect Cardiomyopathy Short neck Brachydactyly Peripheral neuropathy Cyclopia Proboscis Adrenal medullary hypoplasia Cortical tubers Megalencephaly Hyperkeratosis Patellar dislocation Brachycephaly Abnormality of the musculature Celiac disease Pointed chin Psychosis Small posterior fossa Mandibular prognathia Depressivity Increased intracranial pressure Optic atrophy Underdeveloped supraorbital ridges Increased head circumference Posteriorly rotated ears High forehead Holoprosencephaly Cleft palate Exotropia Hypotelorism Narrow forehead Microcornea Oral cleft Synophrys Coloboma Macrotia Upslanted palpebral fissure Trigonocephaly Microphthalmia Abnormality of the skeletal system Absent thumb Low-set, posteriorly rotated ears Abnormality of digit Neuropathic arthropathy Arthropathy Curly hair Facial cleft Absent eyebrow Sparse eyebrow Biparietal narrowing Bilateral ptosis Hemangioma Ichthyosis Peripheral axonal neuropathy Severe combined immunodeficiency Hepatosplenomegaly Combined immunodeficiency Microtia Nystagmus Blepharophimosis Wide mouth Neonatal hypotonia Thin upper lip vermilion Motor delay Pain Prominent forehead Focal-onset seizure Generalized myoclonic seizures Retrognathia Neurological speech impairment Hyperlordosis Long fingers Anxiety Gastroesophageal reflux Aggressive behavior Tremor Intellectual disability, moderate Irritability Speech apraxia Large forehead Delayed ability to walk Relative macrocephaly Drooling Stereotypy Open mouth Narrow palpebral fissure Long palpebral fissure Lymphopenia Tricuspid regurgitation Pancytopenia Decreased antibody level in blood Lymphadenopathy Autistic behavior Apraxia Pneumonia Recurrent infections Immunodeficiency Long philtrum Fever Neoplasm Abnormal heart valve morphology Aortic valve stenosis Self-mutilation Dental crowding Metacarpal synostosis Abnormality of the skin Joint hyperflexibility Abnormality of the pinna Delayed skeletal maturation Arrhythmia Cryptorchidism Hearing impairment Inappropriate laughter Long toe Tics Fair hair Exencephaly


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