Cognitive impairment, and Facial asymmetry

Diseases related with Cognitive impairment and Facial asymmetry

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match KERATODERMA HEREDITARIUM MUTILANS


Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

Low match ISOLATED KLIPPEL-FEIL SYNDROME


Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

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Other less relevant matches:

Low match GABRIELE-DE VRIES SYNDROME


Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Low match ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME


Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Low match FRAGILE X SYNDROME


Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Low match 1P31P32 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

Low match 17Q11.2 MICRODUPLICATION SYNDROME


17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Low match AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME


AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome|escobar variant multiple pterygium syndrome|evmps|escobar syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Facial asymmetry. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Strabismus Low-set ears Muscular hypotonia Abnormal facial shape Cleft palate Scoliosis Absent speech Downslanted palpebral fissures Cryptorchidism Hearing impairment Hypertelorism Pectus excavatum Mandibular prognathia Macrocephaly Delayed speech and language development Abnormality of the skeletal system Webbed neck Sparse eyebrow Abnormality of the pinna Short stature Abnormality of cardiovascular system morphology Tremor Microcephaly Anteverted nares Micrognathia Overgrowth Abnormality of movement Attention deficit hyperactivity disorder

Rare Symptoms - Less than 30% cases


Broad forehead Craniosynostosis Joint laxity Anxiety Failure to thrive Cerebral cortical atrophy Cleft lip Malar flattening Ventriculomegaly Postural instability Neonatal hypotonia Intrauterine growth retardation Hyperpigmentation of the skin Dystonia Myoclonus Intellectual disability, mild Hypoplasia of the corpus callosum Narrow mouth Inguinal hernia Thin upper lip vermilion Hyperextensibility of the finger joints Intellectual disability, moderate Gait disturbance Thin vermilion border Dysarthria Synophrys Thick lower lip vermilion Unsteady gait Neurological speech impairment Long fingers High, narrow palate Narrow face Pointed chin Motor delay Feeding difficulties Tall stature Craniofacial asymmetry Sensorineural hearing impairment Conductive hearing impairment Large hands Frontal bossing Wide intermamillary distance Hearing abnormality Low posterior hairline Dilatation Macroorchidism Hyperactivity Joint hypermobility Coarse facial features Long face Self-injurious behavior Polydactyly Otitis media Wide mouth Short chin Agenesis of corpus callosum Urinary incontinence Sinusitis Prominent forehead Heterotopia Upslanted palpebral fissure Jaundice Hip dysplasia Vesicoureteral reflux Polymicrogyria Thick vermilion border Renal hypoplasia Round face Hydronephrosis Retinopathy Pigmentary retinopathy Mitral valve prolapse Finger joint hypermobility Hyperkinesis Congenital macroorchidism Macroorchidism, postpubertal Increased size of the mandible Oppositional defiant disorder Abnormality of skeletal morphology Folate-dependent fragile site at Xq28 Periventricular gray matter heterotopia Aplasia/Hypoplasia of the corpus callosum Abnormal head movements Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Severe temper tantrums Hernia Enuresis Large forehead Poor eye contact Broad palm Polyphagia Hypertension Hydrocephalus Abnormality of neuronal migration Chronic otitis media Premature ovarian insufficiency Relative macrocephaly Hypertonia Encopresis Short nose Abnormality of the tongue Abnormality of the urinary system Long philtrum Arthrogryposis multiplex congenita Dolichocephaly Finger syndactyly Camptodactyly of finger Telecanthus Umbilical hernia Hypogonadism Skeletal muscle atrophy Oral cleft Epicanthus Inguinal freckling Spinal neurofibromas Focal T2 hyperintense basal ganglia lesion Plexiform neurofibroma Deviated nasal septum Neurofibrosarcoma Abnormality of the foot Pulmonary hypoplasia Subcutaneous neurofibromas Neonatal respiratory distress Rib fusion Aplasia/Hypoplasia of the abdominal wall musculature Symphalangism affecting the phalanges of the hand Abnormal eyelid morphology Aplasia/Hypoplasia of the skin Abnormality of the sternum Vertebral segmentation defect Aortic aneurysm Nevus Pterygium Scrotal hypoplasia Spina bifida occulta Hypoplasia of penis Limitation of joint mobility Multiple pterygia Popliteal pterygium Optic nerve glioma Axillary freckling Overfolded helix Metopic synostosis Morphological abnormality of the gastrointestinal tract Spasticity Neoplasm Abnormal aortic valve morphology Partial absence of the septum pellucidum Intraventricular hemorrhage Ureterocele Broad face Pes cavus Arachnoid cyst Narrow nose Arnold-Chiari type I malformation Syringomyelia Absent septum pellucidum Cutis marmorata Obsessive-compulsive behavior Abnormal heart morphology Protruding ear Lisch nodules Broad neck Overbite Thick nasal alae Bifid nose Antecubital pterygium Axillary pterygium Bone cyst Long foot Alopecia of scalp Joint hyperflexibility Neurofibromas Sparse eyelashes Abnormality of dental enamel Sparse and thin eyebrow Cafe-au-lait spot Hypoplasia of dental enamel Specific learning disability Autistic behavior Abnormal cerebellum morphology Aggressive behavior Behavioral abnormality Abnormal cranial nerve morphology Ectopic anus Fused cervical vertebrae Short sternum Abnormality of the shoulder Abnormal sacrum morphology Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Decreased cervical spine mobility Limited neck range of motion Growth delay Abnormality of the dentition Posteriorly rotated ears Abnormality of the vertebral column Mild intrauterine growth retardation Difficulty walking Kyphoscoliosis Brachycephaly Osteoporosis Talipes equinovarus Myopia Lacrimal duct stenosis Hypothyroidism Periorbital fullness Esophageal atresia Waddling gait Delayed myelination Gliosis Abnormality of the cerebral white matter Sprengel anomaly Vertebral fusion Pectus carinatum Abnormality of the nail Xanthomatosis Abnormal toenail morphology Palmoplantar hyperkeratosis Mutism Osteolysis Hypogonadotrophic hypogonadism Thickened skin Leukonychia Palmoplantar keratoderma Ichthyosis Hypotrichosis Papule Hyperkeratosis Alopecia Amniotic constriction ring Plantar hyperkeratosis Hemiplegia/hemiparesis Anal atresia Renal hypoplasia/aplasia Spina bifida Abnormality of the ribs Postaxial polydactyly Flat face Cleft upper lip Abnormality of the kidney Abnormality of the spinal cord Short neck Ventricular septal defect Honeycomb palmoplantar keratoderma Epidermal thickening Ainhum Autoamputation of digits Camptodactyly Short philtrum Pes planus Poor head control Aniridia Brisk reflexes Mask-like facies Postural tremor Bilateral ptosis Slurred speech Low anterior hairline Hypoplasia of the fovea Limb ataxia Involuntary movements Apraxia Hypopigmentation of the skin Pulmonic stenosis Congenital cataract Hypoplasia of the iris Speech apraxia Coloboma Midface retrusion Gastroesophageal reflux High forehead Macrotia Autism Depressivity Obesity Intellectual disability, severe Titubation Atrial septal defect Frontal cortical atrophy Truncal titubation Scanning speech Broad distal phalanx of finger Abnormality of the pulmonary artery Corneal opacity Muscular hypotonia of the trunk Prominent nasal bridge Intellectual disability, profound Disproportionate tall stature Decreased muscle mass Nasal speech Spontaneous abortion Dental crowding Broad-based gait High myopia Epileptic spasms Bifid uvula Generalized myoclonic seizures Recurrent fractures Bulbous nose Arachnodactyly Smooth philtrum Slender finger Slender build Reduced visual acuity Cataract Gait ataxia Cerebellar hypoplasia Cerebral atrophy Cerebellar atrophy Optic atrophy Visual impairment Nystagmus Small earlobe Ataxia Asymmetry of the ears Long palm Focal motor seizures Narrow palm Long hallux Absence of labia majora



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