Cognitive impairment, and Triangular face

Diseases related with Cognitive impairment and Triangular face

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


Top matches:

Medium match X-LINKED RETICULATE PIGMENTARY DISORDER


X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

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

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

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Other less relevant matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Medium match ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION


ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match 17P11.2 MICRODUPLICATION 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

Medium match WOODHOUSE-SAKATI SYNDROME


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

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Top 5 symptoms//phenotypes associated to Cognitive impairment and Triangular face

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Mandibular prognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Triangular face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Delayed speech and language development Scoliosis Intellectual disability, mild Frontal bossing Macrotia Generalized hypotonia Downslanted palpebral fissures Hypertrophic cardiomyopathy Muscular hypotonia Splenomegaly Low-set ears Hepatomegaly Cirrhosis Abnormality of the genital system Neonatal hypotonia Hypertension Long foot Dilatation Broad forehead Large hands High palate Tall stature Short stature Hearing impairment Dysarthria

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Cleft palate Hypertrichosis Hypertriglyceridemia Epidermal acanthosis Hepatic steatosis Hirsutism Arrhythmia Hypoplasia of the maxilla Specific learning disability Dental malocclusion Hyperinsulinemia Scapular winging Abnormality of the kidney Elevated hepatic transaminase Umbilical hernia Hernia Low-set, posteriorly rotated ears Hypothyroidism Cardiomyopathy Abnormality of cardiovascular system morphology Expressive language delay Wide nasal bridge Sparse eyebrow Lipodystrophy Clitoral hypertrophy Wolff-Parkinson-White syndrome Labial hypertrophy Diabetes mellitus Delayed puberty Tetralogy of Fallot Myocardial infarction Sensorineural hearing impairment Pulmonic stenosis Hyperlipidemia Insulin-resistant diabetes mellitus Abnormal heart morphology Failure to thrive Generalized muscular appearance from birth Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Skeletal muscle hypertrophy Prominent nasal bridge Abnormal T-wave Decreased serum leptin Micrognathia Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Bone cyst Lipoatrophy Decreased fertility Polyphagia High pitched voice Prominent umbilicus Polycystic ovaries Hyperactivity Abnormal cerebellum morphology Intellectual disability, moderate Macrocephaly Prominent forehead Poor eye contact Long nose External genital hypoplasia Wide mouth Prominent nose Long face Malar flattening Strabismus Cerebellar hypoplasia Attention deficit hyperactivity disorder Thin upper lip vermilion Autism Gait ataxia Micropenis Cerebral cortical atrophy Myopia Ventriculomegaly EEG abnormality Tremor Posteriorly rotated ears Cryptorchidism Ataxia High forehead Feeding difficulties Dystonia Spasticity Joint laxity Open bite Diarrhea Excessive wrinkled skin High hypermetropia Bipolar affective disorder Abnormality of metabolism/homeostasis Babinski sign Right ventricular hypertrophy Gait disturbance Hyperreflexia Alopecia Dysphasia Speech apraxia Echolalia Hypocholesterolemia Abnormal mitral valve morphology Prominent nasal tip Poor fine motor coordination Aplasia/Hypoplasia of the abdominal wall musculature Central sleep apnea Abnormality of the pharynx Shield chest Abnormality of chromosome segregation Receptive language delay Redundant neck skin Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of the pulmonary artery Abnormal renal morphology Delayed skeletal maturation Infantile muscular hypotonia Abnormality of dental morphology Epicanthus Apnea Anxiety Gastroesophageal reflux Abnormality of the dentition Hypoplasia of the corpus callosum Dysphagia Microcephaly Feeding difficulties in infancy Hypoplasia of the ovary Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Abnormal pulmonary valve morphology Autistic behavior Oral-pharyngeal dysphagia Multiple lentigines Language impairment Trigonocephaly Failure to thrive in infancy Patent foramen ovale Sleep apnea Hypercholesterolemia Stereotypy Small for gestational age Dental crowding Abnormality of the cardiovascular system Abnormal endocardium morphology Delayed myelination Bifid uvula Smooth philtrum Hypermetropia Hypogonadism Amenorrhea Mental deterioration Melanoma Mitral valve prolapse Abnormality of the face Subcutaneous nodule Left ventricular hypertrophy Cafe-au-lait spot Spina bifida occulta Hyperextensible skin Nevus Myelodysplasia Abnormality of the voice Abnormal spermatogenesis Periodic hypokalemic paresis Melanocytic nevus Bilateral cryptorchidism Bundle branch block Webbed neck Thick vermilion border Atrioventricular canal defect Ptosis Hypospadias Short neck Intrauterine growth retardation Brachycephaly Hyperkeratosis Depressed nasal bridge Growth delay Joint hyperflexibility Pectus carinatum Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Abnormality of the ear Freckling Camptodactyly Pectus excavatum Fine hair Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Premature skin wrinkling Dehydration Decreased testicular size Sparse scalp hair Polyneuropathy Sensory neuropathy Abnormality of movement Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Protruding ear Primary amenorrhea Sprengel anomaly Decreased serum estradiol Autoimmune thrombocytopenia Multiple cafe-au-lait spots Neuroblastoma Curly hair Severe sensorineural hearing impairment Decreased serum testosterone level Anodontia Heart block Hypoplasia of the uterus Choreoathetosis Aplasia/Hypoplasia of the eyebrow Flat occiput Premature ovarian insufficiency Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Effort-induced polymorphic ventricular tachycardias Glioma Short mandibular rami Disproportionate tall stature Long neck Metopic synostosis Slender build Communicating hydrocephalus Megalencephaly Long fingers Lumbar hyperlordosis Severe expressive language delay High myopia Overgrowth Arachnodactyly Hyperlordosis Difficulty walking Pes planus Kyphoscoliosis Thick corpus callosum Pancreatitis Upslanted palpebral fissure Abnormality of the liver Hepatic failure Malabsorption Pruritus Stroke Retinopathy Abnormal cardiac septum morphology Scarring Proteinuria Thick hair Jaundice Acidosis Patent ductus arteriosus Renal insufficiency Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Proptosis Absent speech Renal cyst Cogwheel rigidity Intellectual disability, severe Motor delay Nystagmus Grasp reflex Stuttering Hydranencephaly Focal dystonia Short philtrum Limb dystonia Infantile spasms Lissencephaly Lower limb spasticity Short palpebral fissure Rigidity Flexion contracture Deeply set eye Neurological speech impairment Kyphosis Enlarged cisterna magna Cerebellar atrophy Hydrocephalus Disorganization of the anterior cerebellar vermis Infra-orbital crease Retrocerebellar cyst Abnormality of the philtrum Microphallus Focal impaired awareness seizure Poor speech Prominent supraorbital ridges Scrotal hypoplasia Intention tremor Cerebellar vermis hypoplasia Hypotelorism Focal-onset seizure Dysmetria Hematuria Cyanosis Short digit Febrile seizures Ventricular tachycardia Bilateral single transverse palmar creases Cardiac arrest Short phalanx of finger Hypoplasia of dental enamel Palpitations Short metacarpal Reduced tendon reflexes Syncope Sudden cardiac death Broad nasal tip Small hand High, narrow palate Wide nose Short palm Abnormal palate morphology Oligodontia Thin vermilion border Left bundle branch block Clinodactyly of the 5th toe First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Ventricular extrasystoles Ventricular arrhythmia Short finger Prolonged QT interval Right bundle branch block 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Bulbous nose Limb muscle weakness Pigmentary retinopathy Renal tubular acidosis Butterfly vertebrae Peripheral pulmonary artery stenosis Cholestatic liver disease Pulmonary artery stenosis Poor coordination Exocrine pancreatic insufficiency Posterior embryotoxon Heart murmur Axenfeld anomaly Rickets Pointed chin Increased body weight Renal dysplasia Cholestasis Renal hypoplasia Coarctation of aorta Dark urine Congestive heart failure Toe syndactyly Syndactyly Dolichocephaly Dilated cardiomyopathy Retrognathia Clinodactyly of the 5th finger Elevated serum creatine phosphokinase Clinodactyly Depressivity Brachydactyly Hyperhidrosis Abnormality of the ovary Angina pectoris Oligomenorrhea Abnormality of lipid metabolism Nephropathy Autoimmunity Hepatosplenomegaly Numerous nevi



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Thin upper lip vermilion, related diseases and genetic alterations Arthritis and Hypotrichosis, related diseases and genetic alterations Macrocephaly and High, narrow palate, related diseases and genetic alterations Tremor and Bronchiectasis, related diseases and genetic alterations

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