Hypertelorism, and Macrocephaly

Diseases related with Hypertelorism and Macrocephaly

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

Top matches:

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Macrocephaly
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about AUTISM, SUSCEPTIBILITY TO, 18; AUTS18

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Other less relevant matches:

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

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

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Macrocephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Macrocephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Prominent forehead Midface retrusion Seizures Abnormal facial shape Depressed nasal bridge Broad forehead Autism Short stature High forehead

Rare Symptoms - Less than 30% cases

Ptosis Nystagmus Attention deficit hyperactivity disorder Broad nasal tip Hyperactivity Relative macrocephaly Retrognathia Obesity Mandibular prognathia Apraxia Proptosis Atrial septal defect Constipation Anxiety Autistic behavior Generalized hypotonia Failure to thrive Tall stature Delayed speech and language development High palate Ventriculomegaly Intellectual disability, mild Short nose Large forehead Speech apraxia Delayed gross motor development Language impairment Delayed ability to walk Drooling Irritability Stereotypy Open mouth Delayed myelination Poor speech Hydrocephalus Intellectual disability, moderate Aggressive behavior Behavioral abnormality Strabismus Abnormality of the sternum Webbed neck Thick vermilion border Motor delay Reduced bone mineral density Kyphosis Lymphadenopathy Fever Long philtrum Immunodeficiency Recurrent infections Pneumonia Hepatosplenomegaly Decreased antibody level in blood Fractures of the long bones Pancytopenia Lymphopenia Combined immunodeficiency Biparietal narrowing Severe combined immunodeficiency Increased head circumference Neoplasm Narrow iliac wings Pectus excavatum Blue sclerae Osteopenia Postnatal growth retardation Platyspondyly Recurrent fractures Triangular face Oligohydramnios Wormian bones Lambdoidal craniosynostosis Microretrognathia Wide mouth High pitched voice Thin ribs Turricephaly Coronal craniosynostosis Decreased skull ossification Pulmonic stenosis Intrauterine growth retardation Hypertrophic cardiomyopathy Craniofacial dysostosis Hearing impairment Elongated superior cerebellar peduncle Molar tooth sign on MRI Large for gestational age Oculomotor apraxia Cerebellar vermis hypoplasia Abnormal cerebellum morphology Postaxial polydactyly Polymicrogyria Polydactyly Dysarthria Ataxia Broad hallux phalanx Optic atrophy Shallow orbits Scaphocephaly Open bite Trigonocephaly Hypoplasia of the maxilla Toe syndactyly Dolichocephaly Upslanted palpebral fissure Prominent supraorbital ridges Pointed chin Sleep disturbance Wide nose Pes planus Visual impairment Headache Arrhythmia Abnormality of the kidney Short neck Epicanthus Low-set ears Aplasia/Hypoplasia of the frontal sinuses Prominent palatine ridges Premature posterior fontanelle closure Absent/hypoplastic paranasal sinuses Abnormality of the skull base Metopic synostosis Epicanthus inversus Abnormality of the thyroid gland Wide anterior fontanel Small for gestational age Posteriorly rotated ears Brachycephaly Underdeveloped superior crus of antihelix Frontal upsweep of hair Anteriorly placed anus Protruding ear Abnormality of the pinna Neonatal hypotonia Abnormal heart morphology Broad jaw Mild global developmental delay Thickened calvaria Increased intracranial pressure Increased bone mineral density Facial palsy Postnatal macrocephaly


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypodontia, related diseases and genetic alterations Hydrocephalus and Sudden cardiac death, related diseases and genetic alterations Edema and Primary amenorrhea, related diseases and genetic alterations Ptosis and Hyporeflexia, related diseases and genetic alterations Cataract and Dilated cardiomyopathy, related diseases and genetic alterations