Frontal bossing, and Psychosis

Diseases related with Frontal bossing and Psychosis

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

Top matches:

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

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

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

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

Other less relevant matches:

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Intellectual disability, mild Pectus excavatum Growth delay Hypertelorism Delayed speech and language development Scoliosis High palate Behavioral abnormality Gait disturbance Epicanthus Depressivity Pectus carinatum Microcephaly Hallucinations Muscular hypotonia Dysarthria Skeletal muscle atrophy Hyperreflexia Spasticity Muscle weakness Abnormality of the skeletal system Midface retrusion Joint hyperflexibility Babinski sign Gait ataxia Mental deterioration Kyphoscoliosis Macrotia Coarse facial features Mandibular prognathia Intellectual disability, severe Hydrocephalus Optic atrophy Strabismus Short stature Anxiety Cataract Abnormal facial shape Dental malocclusion Prominent nasal bridge Sensorineural hearing impairment Hearing impairment Prominent nose Neurological speech impairment Inguinal hernia Abnormality of the dentition Protruding ear Everted lower lip vermilion Kyphosis Low-set ears Autism Tapered finger Brachydactyly

Rare Symptoms - Less than 30% cases

Micrognathia Large hands Abnormality of the foot Hernia Bipolar affective disorder Anodontia Ataxia Flat occiput Genu valgum Cleft palate Choreoathetosis Dystonia Dysmetria Respiratory tract infection Flexion contracture Joint hypermobility Speech apraxia Gliosis Spastic gait Peripheral neuropathy Short philtrum Single transverse palmar crease Thickened calvaria Pointed chin Patellar dislocation Neurodevelopmental delay Broad forehead Cerebral atrophy Immunodeficiency Myopia Craniofacial hyperostosis Severe sensorineural hearing impairment Self-injurious behavior Camptodactyly Prominent supraorbital ridges Widely spaced teeth Narrow palate Highly arched eyebrow Thick eyebrow Cerebral cortical atrophy Delayed skeletal maturation Wide nose Hypoplasia of the corpus callosum Attention deficit hyperactivity disorder Depressed nasal bridge Ventriculomegaly Emotional lability Aggressive behavior Anorexia Open mouth Narrow face Failure to thrive Abnormality of the rib cage Hyperactivity Joint laxity Prominent forehead Dental crowding Long face Hypoplasia of the maxilla Nasal speech Anteverted nares Motor delay Schizophrenia Thin upper lip vermilion High forehead Cerebellar atrophy Clinodactyly Aplasia/Hypoplasia of the corpus callosum Myopathy Bifid sternum Thick nasal septum Abnormality of the nasal alae Short neck Talipes equinovarus Hepatomegaly Pain Nystagmus Drumstick terminal phalanges Pes cavus Areflexia Splenomegaly Corneal opacity Progressive cerebellar ataxia Macroglossia Neurodegeneration Retinal degeneration Confusion Hypermetropia Abnormality of the cerebral white matter Arthritis Malar flattening Hepatosplenomegaly Umbilical hernia Skeletal dysplasia Osteopenia Recurrent respiratory infections Recurrent infections Broad thumb Uterine prolapse Hyperconvex fingernails Lumbar kyphosis Loss of consciousness Anteriorly placed anus Atonic seizures Short chin Broad palm Abnormality of digit Progressive spasticity Broad hallux Emphysema Soft skin Abnormality of neuronal migration Cutis marmorata Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Abnormality of the genitourinary system Redundant skin Coarse hair Sleep apnea Spinal canal stenosis Acrocyanosis Retinoschisis Abnormal diaphysis morphology Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Decreased antibody level in blood Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Premature loss of primary teeth Hypoplastic fingernail Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Abnormal mitral valve morphology Restrictive cardiomyopathy Delayed myelination Depressed nasal ridge Otitis media Abnormality of joint mobility Dolichocephaly Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of the ilium Camptodactyly of finger Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Astigmatism Celiac disease Retinal thinning Dermal translucency Severe muscular hypotonia Involuntary movements Epileptic encephalopathy Inability to walk Encephalopathy Absent speech Broad eyebrow Periorbital fullness Abnormality of the musculature Apraxia Postnatal growth retardation Developmental regression Adrenal medullary hypoplasia Cortical tubers Patellar subluxation Megalencephaly Scaphocephaly Cerebral dysmyelination Long ear Hip dysplasia Amblyopia Heart murmur Chronic otitis media Increased intracranial pressure Recurrent bacterial infections Low anterior hairline Limb ataxia Gingival overgrowth Tall stature Open bite Bowing of the long bones Progressive neurologic deterioration Hypertrichosis Deep philtrum Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Bowing of the legs Bowel incontinence Abnormality of the gingiva Reduced ejection fraction Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Spondylolisthesis Abnormality of the helix Hydrocele testis Femoral bowing Dysostosis multiplex Impaired smooth pursuit Delusions Arachnodactyly Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Cutis laxa Thick lower lip vermilion Coxa valga Feeding difficulties Hypothyroidism Micropenis Diabetes mellitus Hypogonadism Alopecia Abnormality of metabolism/homeostasis Diarrhea Hyperplasia of midface Arthrogryposis multiplex congenita Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Sparse hair Hypotrichosis Overbite Fine hair Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Sparse scalp hair Primary amenorrhea Myocardial infarction Abnormality of extrapyramidal motor function Delayed puberty Bilateral sensorineural hearing impairment Dehydration Amenorrhea Decreased testicular size Triangular face Polyneuropathy Sensory neuropathy Abnormality of movement Abnormality of the nares Mood swings Sparse eyebrow Distal amyotrophy Overgrowth Specific learning disability Dysphagia Agenesis of corpus callosum Abnormal cerebellum morphology Sleep disturbance Short foot Lower limb muscle weakness Progressive muscle weakness Paraplegia Dilatation Spastic paraplegia Constipation Intrauterine growth retardation Hydronephrosis Difficulty walking Ventricular septal defect Lower limb spasticity Clonus Upper limb spasticity Cerebellar vermis atrophy Brachycephaly Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Scleroderma Hoarse voice Ankle clonus Spastic diplegia Hammertoe Impaired vibratory sensation Abnormality of the hand Slurred speech Drooling Spastic paraparesis Premature ovarian insufficiency Abnormally folded helix Abnormality of the hair Disproportionate tall stature Aortic aneurysm Abnormality of cardiovascular system morphology Obsessive-compulsive behavior Hypertonia Congestive heart failure Obesity Cardiomyopathy Long nose Telecanthus Narrow nasal bridge Slender finger Aortic root aneurysm Macroorchidism Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Pes planus Feeding difficulties in infancy Horseshoe kidney Short metacarpal Wide anterior fontanel Abnormality of retinal pigmentation Decreased body weight Mitral regurgitation Abnormal form of the vertebral bodies Atrial septal defect Cerebellar vermis hypoplasia Tetraplegia Hyperlordosis Hypodontia Delayed eruption of teeth Thick vermilion border Short distal phalanx of finger Abnormality of the voice Dilated cardiomyopathy Severe global developmental delay Wide mouth Sandal gap Aspiration Aplasia/Hypoplasia of the eyebrow Streak ovary Low frustration tolerance Oppositional defiant disorder Cat cry Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Increased thyroid-stimulating hormone level Short nose Abnormal spermatogenesis Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Hypertension Microphthalmia Aortic valve stenosis Impaired social interactions Stereotypy Pulmonary arterial hypertension Abnormality of skin pigmentation Oral cleft Facial asymmetry Pulmonic stenosis Small for gestational age Intellectual disability, moderate Velopharyngeal insufficiency Cleft lip Gastroesophageal reflux Oligodontia Posteriorly rotated ears Clinodactyly of the 5th finger Ascending tubular aorta aneurysm Patent ductus arteriosus Hypospadias Poor eye contact


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