Frontal bossing, and Autism

Diseases related with Frontal bossing and Autism

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

Top matches:

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

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

Other less relevant matches:

Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Autism

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Autism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Hypoplasia of the corpus callosum Cryptorchidism Strabismus Low-set ears Ventriculomegaly Behavioral abnormality Growth delay Scoliosis Postnatal growth retardation Short stature Downslanted palpebral fissures Broad forehead Attention deficit hyperactivity disorder Feeding difficulties Immunodeficiency Microcephaly Hypertelorism Muscular hypotonia Hyperactivity Delayed speech and language development Posteriorly rotated ears Epicanthus Abnormal facial shape Pointed chin

Rare Symptoms - Less than 30% cases

Hernia Cataract Anxiety Thick vermilion border Highly arched eyebrow Cerebellar vermis hypoplasia Schizophrenia Triangular face Protruding ear Micrognathia Talipes equinovarus Visual impairment Intellectual disability, moderate Intrauterine growth retardation Ventricular septal defect Anteverted nares High forehead Hypospadias Gastroesophageal reflux Prominent forehead Inguinal hernia Failure to thrive High palate Hip dislocation Hip dysplasia Smooth philtrum Midface retrusion Motor delay Tall stature Long philtrum Biparietal narrowing Short nose Dermal translucency Broad eyebrow Hydrocephalus Relative macrocephaly Wide mouth Hallucinations Tetralogy of Fallot Specific learning disability Dilated cardiomyopathy Arthrogryposis multiplex congenita Astigmatism Mitral regurgitation Long face Atrial septal defect Preauricular skin tag Optic nerve hypoplasia Spasticity Chronic otitis media Proximal placement of thumb Intellectual disability, mild Colpocephaly Hypertonia Glaucoma Disproportionate tall stature Upslanted palpebral fissure Thin skin Brisk reflexes Single median maxillary incisor Unilateral renal agenesis Reduced subcutaneous adipose tissue Adducted thumb Abnormal hair pattern Cutis laxa Aortic regurgitation Spinal canal stenosis Premature skin wrinkling Spontaneous abortion Wormian bones Calcaneovalgus deformity Delayed cranial suture closure Oligohydramnios Small foramen magnum Congenital cataract Corneal opacity Hearing impairment Nystagmus Myopia Dysphagia Kyphosis Osteopenia Thrombocytopenia Constrictive median neuropathy Increased mean corpuscular volume Microphthalmia Large for gestational age Recurrent infections Malar flattening Postnatal macrocephaly Increased head circumference Severe combined immunodeficiency Combined immunodeficiency Lymphopenia Pancytopenia Decreased antibody level in blood Lymphadenopathy Hepatosplenomegaly Pneumonia Obesity Fever Mandibular prognathia Depressed nasal bridge Neoplasm Febrile seizures Facial asymmetry Abnormality of the foot Microtia Proptosis Absent speech Periorbital fullness Speech apraxia Apraxia Developmental regression Cerebellar hypoplasia Aggressive behavior Lissencephaly Coloboma Congenital hip dislocation Hypoplasia of penis Overgrowth Wide nose Narrow mouth Micropenis Clinodactyly of the 5th finger Cerebellar atrophy Short neck Wide nasal bridge Cerebral visual impairment Vesicoureteral reflux Blepharophimosis Thick eyebrow Low-set, posteriorly rotated ears Abnormal heart morphology Optic atrophy Dysarthria Facial hypotonia Long nose Neurodevelopmental delay Obsessive-compulsive behavior Sparse eyebrow Widely spaced teeth Gingival overgrowth Sleep disturbance Short distal phalanx of finger Periventricular gray matter heterotopia


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