Frontal bossing, and Anxiety

Diseases related with Frontal bossing and Anxiety

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

Top matches:

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

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

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

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

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Hyperactivity Scoliosis Muscular hypotonia Gastroesophageal reflux Stereotypy Attention deficit hyperactivity disorder Epicanthus Aggressive behavior Short stature Mandibular prognathia Behavioral abnormality Autism Downslanted palpebral fissures Autistic behavior Microcephaly Cognitive impairment Intellectual disability, mild Schizophrenia Optic atrophy Myopia Spasticity Feeding difficulties High palate Wide nasal bridge Macrocephaly Clinodactyly Dental crowding Abnormal facial shape Low-set ears Hypertelorism Hypoplasia of the corpus callosum Failure to thrive

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Abnormality of brain morphology Broad forehead Smooth philtrum Thick vermilion border Sleep disturbance High forehead Atrial septal defect Dysphagia Mood swings Overgrowth Joint hypermobility Pectus excavatum Midface retrusion Speech apraxia Poor eye contact Wide mouth Neonatal hypotonia Dysarthria Intellectual disability, moderate Expressive language delay Facial asymmetry Pes planus Kyphoscoliosis Hyperplasia of the maxilla Constipation Abnormality of the skeletal system Relative macrocephaly Hallucinations Specific learning disability Thoracic kyphoscoliosis Bipolar affective disorder Hypertonia Motor delay Hyperreflexia Coarse facial features Macrotia Open mouth Absent speech Retrognathia EEG abnormality Hydrocephalus Pectus carinatum Lumbar hyperlordosis Mitral regurgitation Prominent nose Exotropia Narrow palate Self-injurious behavior Hyperextensibility of the finger joints Ascending tubular aorta aneurysm Enuresis Clinodactyly of the 5th finger Irregular dentition Shyness Large forehead Abnormal head movements Macroorchidism, postpubertal Periventricular gray matter heterotopia Oppositional defiant disorder Encopresis Finger joint hypermobility Broad palm Increased size of the mandible Folate-dependent fragile site at Xq28 Congenital macroorchidism Severe temper tantrums Growth delay Muscle weakness Macroorchidism Premature ovarian insufficiency Polyphagia Prominent forehead Receptive language delay Intellectual disability, severe Dilatation Hepatosplenomegaly Obesity Depressivity Cerebral cortical atrophy Joint laxity Protruding ear Neurological speech impairment Long face Postural instability Abnormality of neuronal migration Round face Otitis media Pneumonia Mitral valve prolapse Heterotopia Hyperpigmentation of the skin Sinusitis Narrow face Hyperkinesis Brachydactyly Chronic otitis media Large hands Flexion contracture 2-3 toe syndactyly Skeletal muscle atrophy Dysuria Abnormality of the hand Emotional lability Impaired vibratory sensation Hammertoe Spastic diplegia Ankle clonus Scleroderma Cerebellar vermis atrophy Ankle contracture Premature loss of teeth Upper limb muscle weakness Abnormality of the thumb Drooling Spastic dysarthria Upper limb spasticity Overbite Abnormality of the nares Abnormal hand morphology Knee clonus Panic attack Narrow jaw Suicidal ideation Morphea Hyperextensible hand joints Slurred speech Spastic paraparesis Anteverted nares Paraplegia Cerebellar atrophy Babinski sign Pes cavus Gait ataxia Difficulty walking Prominent nasal tip Hydronephrosis Camptodactyly Spastic paraplegia Abnormality of the foot Genu valgum Lower limb muscle weakness Hoarse voice Dysmetria Distal amyotrophy Short foot Abnormal cerebellum morphology Gliosis Psychosis Choreoathetosis Lower limb spasticity Progressive muscle weakness Spastic gait Clonus Central sleep apnea High hypermetropia Poor fine motor coordination Tetralogy of Fallot Talipes equinovarus Tetraplegia Everted lower lip vermilion Hypospadias Glaucoma Severe global developmental delay Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Short philtrum Muscular hypotonia of the trunk Cataract Constrictive median neuropathy Ptosis Depressed nasal bridge Myoclonus Encephalopathy Thin upper lip vermilion Hyperlordosis Bulbous nose Renal agenesis Clumsiness Pointed chin Cryptorchidism Dandy-Walker malformation Overlapping toe Thick eyebrow Butterfly vertebrae Exaggerated median tongue furrow Abnormality of the genital system Fusion of the left and right thalami Malar flattening Cerebellar hypoplasia Thick upper lip vermilion Holoprosencephaly Long eyelashes Spastic tetraplegia Short distal phalanx of finger Facial hypotonia Hypotelorism Highly arched eyebrow Cerebral calcification Cerebellar vermis hypoplasia Gingival overgrowth Widely spaced teeth Epileptic encephalopathy Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay Long nose Optic nerve hypoplasia Disproportionate tall stature Abnormality of the pharynx Trigonocephaly Triangular face Bifid uvula Delayed myelination Dental malocclusion Abnormality of the cardiovascular system Hypercholesterolemia Sleep apnea Infantile muscular hypotonia Patent foramen ovale Failure to thrive in infancy Language impairment Hypermetropia Oral-pharyngeal dysphagia Abnormality of dental morphology Open bite Dysphasia Vertebral fusion Broad nasal tip Echolalia Abnormality of chromosome segregation Craniosynostosis Abnormal renal morphology Hypocholesterolemia Hypoplasia of the maxilla Small for gestational age Long fingers Micrognathia Maternal diabetes Small face Long hallux Vertebral clefting Ureteral stenosis Mild myopia Hypoplastic helices Laryngotracheomalacia Severe expressive language delay Ventriculomegaly Hearing impairment Cleft palate Recurrent pneumonia Scaphocephaly Microretrognathia Abnormality of the dentition Abnormality of cardiovascular system morphology Abnormal heart morphology Hypothyroidism Finger clinodactyly Low-set, posteriorly rotated ears Apnea Abnormality of the kidney Feeding difficulties in infancy Hyperplasia of midface


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