Frontal bossing, and Attention deficit hyperactivity disorder

Diseases related with Frontal bossing and Attention deficit hyperactivity disorder

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

Top matches:

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

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

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

Other less relevant matches:

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

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

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

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.

1Q21.1 MICRODELETION SYNDROME Is also known as monosomy 1q21.1|del(1)(q21)

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1Q21.1 MICRODELETION SYNDROME

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

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

Top 5 symptoms//phenotypes associated to Frontal bossing and Attention deficit hyperactivity disorder

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
Hyperactivity Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Attention deficit hyperactivity disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Autism

Uncommon Symptoms - Between 30% and 50% cases

High palate Scoliosis Prominent forehead Abnormal facial shape Thin upper lip vermilion Failure to thrive Low-set ears Cognitive impairment Hypertelorism Motor delay Strabismus Behavioral abnormality Schizophrenia Cryptorchidism Inguinal hernia Aggressive behavior Ventriculomegaly Dilatation Wide nasal bridge Hypoplasia of the corpus callosum Hydrocephalus Intellectual disability, mild Intellectual disability, moderate Anxiety Microcephaly Autistic behavior Agenesis of corpus callosum Short nose Long philtrum

Rare Symptoms - Less than 30% cases

Short stature Hepatosplenomegaly Hernia Clinodactyly of the 5th finger Midface retrusion Hydronephrosis Narrow mouth High forehead Overgrowth Long nose Disproportionate tall stature Delayed speech and language development Cataract Spasticity Downslanted palpebral fissures Atrial septal defect Hypertonia Hip dysplasia Hallucinations Obsessive-compulsive behavior Joint hypermobility Epicanthus Aplasia/Hypoplasia of the corpus callosum Short chin Talipes equinovarus Micropenis Broad forehead Short philtrum Joint laxity Gastroesophageal reflux Feeding difficulties Deeply set eye Joint hyperflexibility Dental crowding Intrauterine growth retardation Vesicoureteral reflux Broad thumb 2-3 toe syndactyly Neurological speech impairment Long face Growth delay Microphallus Upslanted palpebral fissure Polydactyly Microphthalmia Jaundice Craniosynostosis Sensorineural hearing impairment Toe syndactyly Anteverted nares Retinopathy Abnormal cardiac septum morphology Enlarged cisterna magna Transposition of the great arteries Facial asymmetry High hypermetropia Thin vermilion border Abnormality of the philtrum Abnormality of the skeletal system Patent ductus arteriosus Hypertension Foot polydactyly Broad hallux Truncus arteriosus Broad hallux phalanx Interrupted aortic arch Ankyloglossia Hand polydactyly Infra-orbital crease Disorganization of the anterior cerebellar vermis Coarctation of aorta Retrocerebellar cyst Depressivity Sleep disturbance Short foot Iris coloboma Bulbous nose Polymicrogyria Metopic synostosis Urinary incontinence Emotional lability Hypoplasia of the maxilla Psychosis Open mouth Anorexia Narrow face Abnormality of the genitourinary system Deep philtrum Nasal speech Abnormality of the voice Aortic aneurysm Narrow nasal bridge Prominent nasal bridge Slender finger Aortic root aneurysm Macroorchidism Abnormality of the rib cage Impaired social interactions Ascending tubular aorta aneurysm Velopharyngeal insufficiency Low frustration tolerance Oppositional defiant disorder Cat cry Abnormally folded helix Arachnodactyly Camptodactyly of finger Pigmentary retinopathy Broad face Renal hypoplasia Abnormality of the urinary system Sparse eyebrow Overfolded helix Cutis marmorata Absent septum pellucidum Syringomyelia Arnold-Chiari type I malformation Narrow nose Arachnoid cyst Ureterocele Protruding ear Intraventricular hemorrhage Craniofacial asymmetry Partial absence of the septum pellucidum Micrognathia Cleft palate Flexion contracture Brachydactyly Ventricular septal defect Abnormality of the dentition Pectus excavatum Brachycephaly Poor eye contact Prolonged partial thromboplastin time External genital hypoplasia Tall stature Vertebral fusion Butterfly vertebrae Hyperplasia of the maxilla Thoracic kyphoscoliosis Abnormality of brain morphology Exaggerated median tongue furrow Short neck Cerebellar atrophy Wide nose Hypoplasia of penis Pointed chin Narrow palate Congenital hip dislocation Lissencephaly Large for gestational age Hypospadias Glaucoma Hip dislocation Arthrogryposis multiplex congenita Specific learning disability Tetralogy of Fallot Relative macrocephaly Self-injurious behavior Exotropia Pain Lymphopenia Neoplasm Depressed nasal bridge Fever Immunodeficiency Recurrent infections Obesity Pneumonia Lymphadenopathy Decreased antibody level in blood Pancytopenia Combined immunodeficiency Stereotypy Biparietal narrowing Severe combined immunodeficiency Increased head circumference Postnatal macrocephaly Myopia Optic atrophy Pectus carinatum Lumbar hyperlordosis Mitral regurgitation Abnormality of the genital system Constrictive median neuropathy Hepatomegaly Focal impaired awareness seizure Neonatal hypotonia Expressive language delay Ataxia Nystagmus Tremor Intellectual disability, severe Cerebellar hypoplasia Cerebral cortical atrophy Gait ataxia Mandibular prognathia Macrotia Poor speech Long hallux Dysmetria Abnormal cerebellum morphology Triangular face Prominent nose Focal-onset seizure Hypotelorism Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Spinal deformities Prolonged prothrombin time Splenomegaly Low posterior hairline Abnormality of metabolism/homeostasis Abdominal pain Coarse facial features Elevated hepatic transaminase Developmental regression Synophrys Smooth philtrum High, narrow palate Macroglossia Memory impairment Hoarse voice Abnormality of the mitochondrion Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis Thoracic hypoplasia Hypoplastic nipples Protuberant abdomen Episodic abdominal pain Dysostosis multiplex Upper airway obstruction Periorbital fullness Bipolar affective disorder


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