Downslanted palpebral fissures, and Progressive neurologic deterioration

Diseases related with Downslanted palpebral fissures and Progressive neurologic deterioration

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Progressive neurologic deterioration that can help you solving undiagnosed cases.

Top matches:

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

High match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Other less relevant matches:

PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY 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

UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE Is also known as arcl2, classic type|arcl2, debrÉ type|autosomal recessive cutis laxa type 2, debrÉ type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE

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

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.

WIEDEMANN-STEINER SYNDROME Is also known as hairy elbows, short stature, facial dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WIEDEMANN-STEINER SYNDROME

Medium match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Progressive neurologic deterioration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Spasticity Microcephaly Depressed nasal bridge Low-set ears Feeding difficulties Mental deterioration Encephalopathy Ptosis Failure to thrive Short stature Intellectual disability, severe Motor delay Optic atrophy Cerebral atrophy Scoliosis EEG abnormality Severe global developmental delay Smooth philtrum Ventriculomegaly Epileptic encephalopathy Intellectual disability, profound Hypoplasia of the corpus callosum High forehead High palate Delayed speech and language development Intellectual disability, mild Strabismus Long philtrum Micrognathia Prominent forehead Growth delay Ataxia

Rare Symptoms - Less than 30% cases

Behavioral abnormality Dysphagia Macrocephaly Thin upper lip vermilion Highly arched eyebrow Sparse eyebrow Frontal bossing Short toe Arthrogryposis multiplex congenita Hypertonia Constipation Hyperactivity Anxiety Hyperreflexia Coarse hair Hypsarrhythmia Focal-onset seizure Developmental regression Upslanted palpebral fissure Dementia Cerebellar hypoplasia Facial asymmetry Aggressive behavior Dolichocephaly Short nose Sensorineural hearing impairment Hearing impairment Psychomotor deterioration Prominent nose Bilateral sensorineural hearing impairment Nystagmus Infantile muscular hypotonia Sparse hair Postnatal growth retardation Intrauterine growth retardation Gastroesophageal reflux Choreoathetosis Dystonia Abnormal facial shape Dilatation Clinodactyly of the 5th finger Relative macrocephaly Telecanthus Intellectual disability, moderate Generalized tonic-clonic seizures Flat occiput Hallucinations Wide nasal bridge Camptodactyly Elevated serum creatine phosphokinase Cerebellar atrophy Dental malocclusion Delayed myelination Patent ductus arteriosus Narrow nasal bridge Postnatal microcephaly Muscular hypotonia Prominent nasal bridge Gait ataxia Bowing of the legs Autoimmune thrombocytopenia Insulin-resistant diabetes mellitus Neurogenic bladder Heart block Aortic aneurysm Macrotia Anodontia Congenital nystagmus Decreased serum testosterone level Decreased serum estradiol Abnormal T-wave Increased thyroid-stimulating hormone level Abnormal spermatogenesis Brachycephaly Streak ovary Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the uterus Hypoplasia of the fallopian tube Progressive alopecia Chorioretinal coloboma Epicanthus Pectus excavatum Narrow mouth Clinodactyly Delayed skeletal maturation Unilateral renal agenesis Hypoplasia of teeth Blepharophimosis Protruding ear Polyneuropathy Scleral staphyloma Sensory neuropathy Abnormality of movement Delayed puberty Hypotrichosis Hypothyroidism Lop ear Micropenis Diabetes mellitus Hypogonadism Short 2nd toe Alopecia Babinski sign Abnormality of metabolism/homeostasis Triangular face Decreased testicular size Profound global developmental delay Primary amenorrhea Aplasia/Hypoplasia of the eyebrow Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Sparse scalp hair Myocardial infarction Amenorrhea Fine hair Psychosis Colpocephaly Abnormality of extrapyramidal motor function Short upper lip Lens luxation Dehydration Genu varum Abnormal heart morphology Short philtrum Corneal opacity Anteverted ears Coarse facial features Pes planus Hydronephrosis Abnormal corpus callosum morphology Coloboma Broad philtrum Autism Hip dislocation Short attention span Depressed nasal tip Abnormality of the elbow Narrow nose Short middle phalanx of finger Asymmetry of the thorax Low frustration tolerance Joint hyperflexibility Myopia Microphthalmia Congestive heart failure Atrial septal defect Talipes equinovarus Ventricular septal defect Abnormality of the skeletal system Brachydactyly Congenital, generalized hypertrichosis Visual impairment Cataract Elbow hypertrichosis Dilatation of renal calices Hyperextensibility at elbow Aplasia/Hypoplasia of the ribs Small forehead Bilateral ptosis Abnormality of the hand Aplasia/Hypoplasia of the corpus callosum Flat face Convex nasal ridge Hirsutism Wide nose Thick eyebrow Progressive visual loss Thick lower lip vermilion Dental crowding Round face Thin vermilion border Synophrys Short chin Aortic regurgitation Abnormal palate morphology Agenesis of corpus callosum Neurological speech impairment Tapered finger Webbed neck Delayed gross motor development Finger clinodactyly Sacral dimple Accelerated skeletal maturation Narrow palpebral fissure Long face Iris coloboma Microcornea Generalized hirsutism Renal agenesis Esotropia Stereotypy Long eyelashes Broad-based gait Hypertrichosis Short palpebral fissure Growth hormone deficiency Rhizomelia Lipodystrophy Diarrhea Pontocerebellar atrophy Hyperextensible skin Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Type I transferrin isoform profile Hydrocephalus Abnormal myelination Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Lower limb hyperreflexia Pointed chin Tall stature Trigonocephaly Abnormality of dental color Gliosis Tetraplegia Neurodegeneration Cerebral cortical atrophy Skeletal muscle atrophy Muscle weakness Yellow-brown discoloration of the teeth Amelogenesis imperfecta Thin skin Abnormality of dental enamel Hypohidrosis Hypoplasia of dental enamel Broad thumb Cerebellar vermis hypoplasia Overgrowth Cerebral calcification Increased variability in muscle fiber diameter Poor suck Spastic tetraplegia Myopathy Elevated hepatic transaminase Fragile skin Thoracolumbar scoliosis Recurrent infections Long foot Splenomegaly Xanthelasma Apnea Edema Respiratory distress Tremor Auditory hallucinations Hepatomegaly Hypertension Flexion contracture Abnormality of the eye Retinopathy Abnormality of vision Intention tremor Hemangioma Venous thrombosis Knee flexion contracture Truncal ataxia Cerebral visual impairment Decreased liver function Telangiectasia Febrile seizures Abnormal pyramidal sign Nail dysplasia Small hand High, narrow palate Short palm Dysmetria Prominent supraorbital ridges Muscular dystrophy Neuronal loss in central nervous system Fasciculations Gait disturbance Dandy-Walker malformation Cutis laxa Lissencephaly Congenital hip dislocation Progressive microcephaly Pachygyria High myopia Broad nasal tip Emphysema Polymicrogyria Poor speech Carious teeth Inguinal hernia Malar flattening Neoplasm Anteverted nares Redundant skin Decreased muscle mass Focal clonic seizures Thick cerebral cortex Dysarthria Peripheral neuropathy Cognitive impairment Abnormal apolipoprotein level Subretinal pigment epithelium hemorrhage Fragmented elastic fibers in the dermis Abnormality of the intrinsic pathway Abnormal subcutaneous fat tissue distribution Generalized joint laxity Prominent veins on trunk Prominent nasolabial fold Abnormal isoelectric focusing of serum transferrin Excessive wrinkled skin Thick hair Delayed closure of the anterior fontanelle Redundant neck skin Depressivity Multifocal seizures Severe muscular hypotonia Tongue fasciculations Falls Autistic behavior Proptosis Myoclonus Posteriorly rotated ears Recurrent respiratory infections Abnormality of the dentition Diffuse cerebral atrophy Gingival overgrowth Chronic constipation Facial hypotonia Atrophy/Degeneration affecting the brainstem Cortical gyral simplification Cortical dysplasia CNS hypomyelination Widely spaced teeth Generalized myoclonic seizures Intellectual disability, progressive Involuntary movements CNS infection Status epilepticus Cyanosis Hypodontia Abnormality of eye movement Muscular hypotonia of the trunk Fever EEG with focal sharp slow waves Frontotemporal cerebral atrophy Tented upper lip vermilion Atypical absence seizures Personality disorder Abnormality of brainstem morphology Generalized tonic seizures Enlarged cisterna magna Abnormality of the periventricular white matter Atonic seizures Posterior staphyloma


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