Frontal bossing, and Aggressive behavior

Diseases related with Frontal bossing and Aggressive behavior

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

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

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

Other less relevant matches:

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

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

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 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 Aggressive behavior

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyperactivity Behavioral abnormality Abnormal facial shape Strabismus Scoliosis Anxiety Autism Epicanthus Muscular hypotonia Schizophrenia Macrocephaly Delayed speech and language development Clinodactyly of the 5th finger Ventricular septal defect Gastroesophageal reflux Short stature Malar flattening Microcephaly Growth delay Cryptorchidism Talipes equinovarus Short philtrum Dental crowding Autistic behavior Attention deficit hyperactivity disorder Widely spaced teeth Low-set ears Patent ductus arteriosus Abnormal cardiac septum morphology Stereotypy Joint laxity Sleep disturbance Intrauterine growth retardation Prominent forehead Feeding difficulties

Rare Symptoms - Less than 30% cases

Neurodevelopmental delay Narrow mouth Hearing impairment Wide mouth Synophrys Long nose Absent speech Depressed nasal bridge Drooling Obsessive-compulsive behavior Flexion contracture Bulbous nose Long face Protruding ear Joint hyperflexibility Agenesis of corpus callosum Broad thumb Nasal speech Atrial septal defect Failure to thrive Arachnodactyly Open mouth Joint hypermobility Deeply set eye Brachycephaly Mild global developmental delay Brachydactyly Slender finger Intellectual disability, mild Pes planus 2-3 toe syndactyly Abnormality of brain morphology Cerebellar hypoplasia Broad nasal tip Motor delay Myopia Mandibular prognathia Thick eyebrow Downslanted palpebral fissures Wide nasal bridge Thick vermilion border Highly arched eyebrow Hypoplasia of the corpus callosum Ascending tubular aorta aneurysm Impaired social interactions Increased head circumference Abnormality of the rib cage Perseveration Thin upper lip vermilion Deviated nasal septum Hypertelorism Hypertension Hyperreflexia Macroorchidism Aortic root aneurysm Narrow nasal bridge Dyspnea Postnatal growth retardation Speech apraxia Slender build Left ventricular noncompaction Poor suck Poor speech High, narrow palate Abnormal cerebellum morphology Prominent nose Intention tremor Abnormally folded helix Clonus Relative macrocephaly Cat cry Velopharyngeal insufficiency Patent foramen ovale Hallux valgus Thickened calvaria Ankylosis Oppositional defiant disorder Right ventricular hypertrophy Retinopathy Low frustration tolerance Disproportionate tall stature Abnormality of the voice Small for gestational age Coxa magna Bifid nose Patellar hypoplasia Moderate global developmental delay Psychosis Long toe Shallow acetabular fossae Retinopathy of prematurity Hypoplasia of the maxilla Chalazion Shawl scrotum Micrognathia Delayed puberty Cognitive impairment Abnormality of the dentition Dilatation Neurological speech impairment Prominent nasal bridge Pectus excavatum Camptodactyly of finger Blepharitis Anorexia Emotional lability Aplasia/Hypoplasia of the corpus callosum Limitation of joint mobility Aortic aneurysm High forehead Esotropia Deep philtrum Abnormality of the genitourinary system Pulmonary arterial hypertension Long eyelashes Short chin Long fingers Narrow face Hallucinations Abnormality of epiphysis morphology Bilateral single transverse palmar creases Sandal gap Sacral dimple Bicuspid aortic valve Congenital contracture Chronic otitis media Cleft palate Cataract Muscular hypotonia of the trunk Anteverted nares Smooth philtrum Short distal phalanx of finger Cerebellar vermis hypoplasia Gingival overgrowth Sparse eyebrow Facial hypotonia Hepatomegaly Dysarthria Dysphagia Short neck Posteriorly rotated ears Diarrhea Splenomegaly Coarse facial features Difficulty walking Joint stiffness Hirsutism Thick lower lip vermilion Hypertrichosis Chronic diarrhea Broad forehead Exaggerated median tongue furrow Recurrent upper respiratory tract infections Optic atrophy Clinodactyly Pneumonia Retrognathia Hepatosplenomegaly Craniosynostosis Recurrent pneumonia Finger clinodactyly Microretrognathia Scaphocephaly Pectus carinatum Thoracic kyphoscoliosis Lumbar hyperlordosis Mitral regurgitation Abnormality of the genital system Exotropia Narrow palate Self-injurious behavior Vertebral fusion Butterfly vertebrae Hyperplasia of the maxilla Progressive hearing impairment Coarse hair Neonatal hypotonia Transposition of the great arteries Intellectual disability, moderate Toe syndactyly Iris coloboma Short foot Vesicoureteral reflux Coarctation of aorta Hand polydactyly Broad hallux High hypermetropia Foot polydactyly Inguinal hernia Truncus arteriosus Broad hallux phalanx Interrupted aortic arch Ankyloglossia Ataxia Tremor Kyphosis Upslanted palpebral fissure Kyphoscoliosis Hydronephrosis Depressivity Growth abnormality Tetralogy of Fallot Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Cellular metachromasia Hernia Hypogonadism Low-set, posteriorly rotated ears Precocious puberty Microphthalmia Unilateral renal agenesis Gonadal dysgenesis Echolalia Severe expressive language delay Self-biting Severe receptive language delay Sensorineural hearing impairment Hydrocephalus Long philtrum Bipolar affective disorder


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