Cognitive impairment, and Low-set ears

Diseases related with Cognitive impairment and Low-set ears

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


Top matches:

Medium match SECKEL SYNDROME 4; SCKL4


Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

Medium match ISOLATED CLOVERLEAF SKULL SYNDROME


Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic ) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.

ISOLATED CLOVERLEAF SKULL SYNDROME Is also known as kleeblattschadel|cloverleaf skull

Related symptoms:

  • Cognitive impairment
  • Hydrocephalus
  • Malar flattening
  • Midface retrusion
  • Proptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ISOLATED CLOVERLEAF SKULL SYNDROME

Medium match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA 47; SCA47


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

Medium match WEST SYNDROME


West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome|infantile spasm syndrome, x-linked 1|xmesid|west syndrome, x-linked|ohtahara syndrome, x-linked|infantile spasms|infantile epileptic-dyskinetic encephalopathy|issx1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEST SYNDROME

Medium match CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME


CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME Is also known as developmental delay-short stature-dysmorphic features-sparse hair syndrome|loucks-innes syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-SHORT STATURE-ECTODERMAL ANOMALIES-INTELLECTUAL DISABILITY SYNDROME

Medium match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

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 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

Top 5 symptoms//phenotypes associated to Cognitive impairment and Low-set ears

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

Patients with Cognitive impairment and Low-set ears. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Seizures Scoliosis Downslanted palpebral fissures High forehead Epicanthus Encephalopathy Generalized hypotonia Ptosis Ataxia Ventricular septal defect Webbed neck Prominent forehead Dysphagia Depressed nasal bridge Macrocephaly Posteriorly rotated ears Delayed speech and language development Epileptic encephalopathy Craniosynostosis

Rare Symptoms - Less than 30% cases


Myoclonus Dolichocephaly Abnormality of the dentition Abnormality of the skeletal system Chorea Generalized myoclonic seizures Sparse eyebrow Spasticity Scaphocephaly Hydrocephalus Frontal bossing Narrow forehead Abnormality of the kidney Pulmonic stenosis Malar flattening Ventriculomegaly Microcephaly Intellectual disability, severe Gait ataxia Proptosis Atrial septal defect Short neck Mandibular prognathia Difficulty walking Cervical C2/C3 vertebral fusion Pes planus Kyphoscoliosis Myeloproliferative disorder Hypoplastic nasal bridge Macrotia Atrial septal dilatation Juvenile myelomonocytic leukemia Cerebral cortical atrophy Absent speech Dysplastic pulmonary valve Cerebellar hypoplasia Myopia Cerebellar atrophy Kyphosis Upslanted palpebral fissure Abnormal vertebral segmentation and fusion Sagittal craniosynostosis Strabismus Atonic seizures Abnormality of the periventricular white matter Enlarged cisterna magna Generalized tonic seizures Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves Anteverted nares Cystic hygroma Decreased cervical spine mobility Short nose Pectus excavatum Patent ductus arteriosus Polyhydramnios Hypertrophic cardiomyopathy Leukemia Mitral valve prolapse Deep philtrum Pterygium Joint laxity Renal hypoplasia/aplasia Hyperlordosis Facial asymmetry Abnormality of cardiovascular system morphology Polydactyly Abnormal sacrum morphology Abnormality of the shoulder Short sternum Fused cervical vertebrae Ectopic anus Conductive hearing impairment Cleft lip Abnormality of the pinna Anal atresia Sensorineural hearing impairment Abnormal cranial nerve morphology Sprengel anomaly Cleft upper lip Abnormality of the vertebral column Vertebral fusion Hemiplegia/hemiparesis Flat face Postaxial polydactyly Wide intermamillary distance Abnormality of the ribs Low posterior hairline Cleft palate Hearing impairment Prominent nasal bridge Large hands Arachnodactyly Long face Abnormal cerebellum morphology Triangular face Overgrowth Spina bifida High myopia Lumbar hyperlordosis Tall stature Aplasia of the ulna Disproportionate tall stature Congenital muscular torticollis Long fingers Megalencephaly Long foot Communicating hydrocephalus Tented upper lip vermilion Slender build Metopic synostosis Expressive language delay Long neck Thick corpus callosum Severe expressive language delay Relative macrocephaly Trigonocephaly Intellectual disability, progressive Toe syndactyly Poor suck Mild short stature Thickened helices Visual impairment Motor delay Dysarthria Wide nasal bridge Syndactyly Clinodactyly Dysmetria Pectus carinatum Small hand Tapered finger Progressive cerebellar ataxia Generalized-onset seizure Diplopia Cerebral visual impairment Incoordination Cerebellar vermis atrophy Dilated fourth ventricle Hyperreflexia Hyperpigmentation of the skin Feeding difficulties Dystonia Steep acetabular roof Growth delay Failure to thrive Intrauterine growth retardation Retrognathia Postnatal growth retardation Underdeveloped nasal alae Decreased body weight Severe failure to thrive 11 pairs of ribs Midface retrusion Elbow ankylosis Skeletal dysplasia Low-set, posteriorly rotated ears Finger syndactyly Limitation of joint mobility Convex nasal ridge Abnormal form of the vertebral bodies Amniotic constriction ring Recurrent corneal erosions Cloverleaf skull Craniofacial dysostosis Hypertonia Micropenis Gingival overgrowth Behavioral abnormality Ectodermal dysplasia Dandy-Walker malformation Cerebellar vermis hypoplasia Sparse eyelashes Nephritis Hypoplastic toenails Tubulointerstitial nephritis Posterior fossa cyst Hypoplasia of the corpus callosum Cerebral atrophy Sparse hair Recurrent respiratory infections Hyperactivity Gastroesophageal reflux EEG abnormality Aggressive behavior Mental deterioration Autistic behavior Generalized tonic-clonic seizures Falls Focal-onset seizure Hematuria Proteinuria Dyspnea Choreoathetosis Abnormality of the nervous system Muscular hypotonia of the trunk Developmental regression Poor speech Dyskinesia Brain atrophy Hypsarrhythmia Intellectual disability, profound Status epilepticus Tetraparesis Progressive microcephaly Micrognathia Spastic tetraparesis Lissencephaly Hyperkinesis Global brain atrophy Infantile spasms Muscle fibrillation Epileptic spasms Developmental stagnation Spastic ataxia Abnormality of skin morphology Limited neck range of motion



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Smooth philtrum, related diseases and genetic alterations Congestive heart failure and Posteriorly rotated ears, related diseases and genetic alterations Tremor and Progressive cerebellar ataxia, related diseases and genetic alterations Visual impairment and Encephalitis, related diseases and genetic alterations

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