Cognitive impairment, and Frontal bossing

Diseases related with Cognitive impairment and Frontal bossing

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


Top matches:

Medium match EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME


Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME


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

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Other less relevant matches:

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Medium match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

Medium match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Medium match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Medium match PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD


Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

Medium match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Top 5 symptoms//phenotypes associated to Cognitive impairment and Frontal bossing

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Generalized hypotonia Ventriculomegaly Abnormal facial shape Hyperactivity Gait ataxia Tremor Ptosis Hypertelorism Long face Poor speech Short stature Proptosis Nystagmus Mandibular prognathia Neurological speech impairment Muscular hypotonia Dysarthria Spasticity Delayed speech and language development Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Clumsiness Intention tremor Triangular face Overgrowth Tall stature Pigmentary retinopathy Peripheral axonal neuropathy Encephalopathy Macrotia Malar flattening Low-set ears High palate Rod-cone dystrophy Kyphosis Cerebellar atrophy Hydrocephalus Growth delay Peripheral neuropathy Severe short stature Hypogonadism Epicanthus Polyhydramnios Posteriorly rotated ears Patent ductus arteriosus Small for gestational age Atrial septal defect Anteverted nares Downslanted palpebral fissures Coma Abnormal cerebellum morphology Failure to thrive Micropenis Depressed nasal bridge Cryptorchidism Wide nasal bridge Motor delay Optic atrophy Intellectual disability, severe Focal-onset seizure Headache Hyperlordosis Dilatation Cerebellar hypoplasia Prominent forehead Paralysis Megalencephaly Hearing impairment Choreoathetosis Deeply set eye Deviation of finger Cortically dense long tubular bones Hypergonadotropic hypogonadism Sensorimotor neuropathy Cholestasis Bilateral single transverse palmar creases Agitation Paraparesis Fat malabsorption Cerebral atrophy Broad ribs Long philtrum Dystonia Microcephaly Biliary tract abnormality Abnormal cortical bone morphology Iris hypopigmentation Spastic paraparesis Abnormality of the nose Craniofacial hyperostosis Fingernail dysplasia Diaphyseal thickening Atrophy/Degeneration affecting the brainstem Broad clavicles Apathy Esodeviation Trigeminal neuralgia Hemiparesis Confusion Cataract Visual impairment Hepatomegaly Vomiting Depressivity Photophobia Mental deterioration Irritability Abnormality of the liver Retinopathy Facial palsy secondary to cranial hyperostosis Unsteady gait Status epilepticus Nausea Cirrhosis Distal sensory impairment Curved distal phalanges of the hand Sensory neuropathy Sclerotic scapulae 2-3 finger syndactyly Polyneuropathy Sclerotic vertebral endplates Sensory impairment Migraine Type II diabetes mellitus Areflexia Ketosis Pneumonia Flat face Acanthosis nigricans Short ribs Encephalocele Abnormality of the metaphysis Decreased fetal movement Limitation of joint mobility Micromelia Disproportionate short-limb short stature Joint hyperflexibility Narrow chest Platyspondyly Abnormality of the kidney Skeletal dysplasia Respiratory insufficiency Brachydactyly Holoprosencephaly Redundant skin Basal ganglia cysts Cloverleaf skull Small abnormally formed scapulae Small foramen magnum Lethal short-limbed short stature Short sacroiliac notch Severe short-limb dwarfism Increased nuchal translucency Small face Metaphyseal irregularity Hypoplastic ilia Short femur Aplasia/Hypoplasia of the lungs Occipital encephalocele Short thorax Flared metaphysis Abnormality of neuronal migration Apneic episodes precipitated by illness, fatigue, stress Chronic lactic acidosis Agenesis of corpus callosum Tetraplegia Hyperammonemia Tachypnea Heterotopia Spastic tetraplegia Increased serum lactate Brain atrophy Metabolic acidosis Partial agenesis of the corpus callosum Lactic acidosis Abnormality of eye movement Ophthalmoplegia Lethargy Abnormality of the nervous system Acidosis Respiratory failure Global brain atrophy Infantile spasms Congenital lactic acidosis Episodic ataxia Decreased activity of the pyruvate dehydrogenase complex Flared nostrils Hyperalaninemia Olivopontocerebellar atrophy Broad philtrum Severe lactic acidosis Breech presentation Central hypotonia Increased CSF lactate Short attention span Preeclampsia Mild microcephaly Mild global developmental delay Hyperostosis Hyperventilation Abnormal cranial nerve morphology Hypoplasia of penis Constriction of peripheral visual field Leukemia External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Microphallus Abnormality of the philtrum Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Ventricular septal defect Short nose Pectus excavatum Hypertrophic cardiomyopathy Craniosynostosis Dolichocephaly Prominent supraorbital ridges Pulmonic stenosis Webbed neck Mitral valve prolapse Deep philtrum Pterygium Cystic hygroma Scaphocephaly Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Scoliosis Focal impaired awareness seizure Scrotal hypoplasia Absent speech Gastroesophageal reflux Dementia Rigidity Abnormality of movement Dyskinesia Parkinsonism Cerebral calcification Bradykinesia Abnormality of extrapyramidal motor function Slurred speech Resting tremor Lewy bodies Shuffling gait Cogwheel rigidity Feeding difficulties Microtia Cerebellar vermis hypoplasia Broad forehead Generalized myoclonic seizures Delayed myelination Delayed gross motor development Postnatal macrocephaly Autism Thin upper lip vermilion Neonatal hypotonia Intellectual disability, moderate Attention deficit hyperactivity disorder Short philtrum Dysmetria Prominent nose Hypotelorism Myopia Upslanted palpebral fissure Abnormality of pelvic girdle bone morphology Choroideremia Progressive cerebellar ataxia Growth hormone deficiency Sparse scalp hair Long eyelashes Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Long eyebrows Distal amyotrophy Central heterochromia Sensorineural hearing impairment Syndactyly Midface retrusion Visual loss Facial palsy Finger syndactyly Dental malocclusion Esotropia Nail dysplasia Increased bone mineral density Cutaneous syndactyly Increased intracranial pressure Anosmia Thick eyebrow Retinal degeneration High forehead Slender build Kyphoscoliosis Pes planus Difficulty walking Joint laxity Prominent nasal bridge Arachnodactyly High myopia Lumbar hyperlordosis Sparse eyebrow Large hands Disproportionate tall stature Long fingers Long foot Communicating hydrocephalus Metopic synostosis Paraplegia Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Muscle weakness Obesity Alopecia Hypothyroidism Hypoglycemia Pallor Sparse hair Distal muscle weakness Spastic paraplegia Delayed puberty Wide-cupped costochondral junctions



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