Frontal bossing, and Behavioral abnormality

Diseases related with Frontal bossing and Behavioral abnormality

In the following list you will find some of the most common rare diseases related to Frontal bossing and Behavioral abnormality 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

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Other less relevant matches:

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

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

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-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Top 5 symptoms//phenotypes associated to Frontal bossing and Behavioral abnormality

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Autism Motor delay Ventriculomegaly Absent speech Spasticity Strabismus Muscular hypotonia Attention deficit hyperactivity disorder Anxiety Immunodeficiency Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Depressivity Pectus carinatum Everted lower lip vermilion Abnormal facial shape Cryptorchidism Aggressive behavior Stereotypy Macrotia Short philtrum Autistic behavior Hypotelorism Prominent nose Pneumonia Hepatosplenomegaly Mandibular prognathia Prominent forehead Optic atrophy Hyperactivity Obesity Epicanthus Hypertelorism Self-injurious behavior Scoliosis Intellectual disability, severe Microcephaly Midface retrusion Cerebral cortical atrophy Epileptic encephalopathy Encephalopathy Poor eye contact Microretrognathia Finger clinodactyly Holoprosencephaly Abnormality of brain morphology Long eyelashes Open mouth Spastic tetraplegia Lumbar hyperlordosis Cerebral calcification Dandy-Walker malformation Mitral regurgitation Tetraplegia Severe global developmental delay Thoracic kyphoscoliosis Abnormality of the genital system Exotropia Dental crowding Scaphocephaly Muscular hypotonia of the trunk EEG abnormality Fusion of the left and right thalami Hyperplasia of the maxilla Coarse facial features Butterfly vertebrae Narrow palate 2-3 toe syndactyly Myoclonus Hypertonia Hydrocephalus Vertebral fusion Hyperreflexia Thick upper lip vermilion Tremor Ataxia External genital hypoplasia Myopia Feeding difficulties Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure Long nose Cerebellar vermis hypoplasia Enlarged cisterna magna Disorganization of the anterior cerebellar vermis Microphallus Infra-orbital crease Abnormality of the philtrum Retrocerebellar cyst Gastroesophageal reflux Focal-onset seizure Nystagmus Deeply set eye Cognitive impairment Dilatation Cerebellar hypoplasia Micropenis Gait ataxia Thin upper lip vermilion Neonatal hypotonia Triangular face Intellectual disability, moderate Neurological speech impairment Poor speech Dysmetria Long face Abnormal cerebellum morphology Recurrent pneumonia Broad forehead Broad nasal tip Bipolar affective disorder Pectus excavatum Wide nose Tapered finger Psychosis Oligodontia Large hands Anodontia Kyphosis Posteriorly rotated ears Proptosis Microtia Abnormality of the foot Facial asymmetry Febrile seizures Tall stature Abnormality of cardiovascular system morphology Short stature Hepatomegaly Periorbital fullness Growth delay Developmental regression Postnatal growth retardation Apraxia Pointed chin Speech apraxia Dermal translucency Neurodevelopmental delay Broad eyebrow Hypoplasia of the corpus callosum Dystonia Cerebral atrophy Inability to walk Involuntary movements Severe muscular hypotonia Failure to thrive Jaundice Craniosynostosis Biparietal narrowing Recurrent infections Lymphadenopathy Decreased antibody level in blood Pancytopenia Lymphopenia Combined immunodeficiency Severe combined immunodeficiency Short nose Increased head circumference Postnatal macrocephaly High palate Wide nasal bridge Clinodactyly Clinodactyly of the 5th finger Retrognathia Long philtrum Fever Elevated hepatic transaminase Hypergonadotropic hypogonadism Abnormality of the liver Malabsorption Cirrhosis Hepatic failure Single transverse palmar crease Hepatitis Cholestasis Hyperbilirubinemia Depressed nasal bridge Abnormality of the coagulation cascade Steatorrhea Prolonged neonatal jaundice Intrahepatic cholestasis Fat malabsorption Giant cell hepatitis Neoplasm Exaggerated median tongue furrow


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Chronic myelogenous leukemia, related diseases and genetic alterations