Downslanted palpebral fissures, and Upslanted palpebral fissure

Diseases related with Downslanted palpebral fissures and Upslanted palpebral fissure

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

Top matches:

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 2; KLEFS2

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Other less relevant matches:

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

8P23.1 MICRODELETION SYNDROME Is also known as del(8)(p23.1)|monosomy 8p23.1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MESH MENDELIAN

More info about 8P23.1 MICRODELETION SYNDROME

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Upslanted palpebral fissure. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge Short stature Short nose Epicanthus Long philtrum Tapered finger Absent speech Delayed speech and language development High palate Abnormal facial shape Pes planus Micrognathia Hypoplasia of the corpus callosum Failure to thrive Thick vermilion border Highly arched eyebrow Depressed nasal bridge Smooth philtrum Delayed ability to walk Bulbous nose Thin vermilion border Deeply set eye Growth delay High forehead Hearing impairment Scoliosis Hypospadias Posteriorly rotated ears Narrow mouth Everted lower lip vermilion Microtia Behavioral abnormality Thin upper lip vermilion Midface retrusion

Rare Symptoms - Less than 30% cases

Brachycephaly Intellectual disability, mild Nystagmus Abnormality of the pinna Ptosis Downturned corners of mouth Hyperactivity Malar flattening Tented upper lip vermilion Prominent nasal bridge Anteverted nares Arachnodactyly Inability to walk Abnormality of the skeletal system Intrauterine growth retardation Overfolded helix Wide intermamillary distance Cryptorchidism Short neck Flat face Triangular face Broad nasal tip Poor speech Abnormal cardiac septum morphology Feeding difficulties Long face Abnormal aortic morphology Encephalopathy Broad hallux phalanx Clinodactyly Delayed cranial suture closure Hypermetropia Small hand Pulmonary artery stenosis Enlarged thorax Mild short stature Short foot Epileptic encephalopathy Long eyelashes Sandal gap Plagiocephaly Camptodactyly Ureterocele Sensorineural hearing impairment Arnold-Chiari type I malformation Carious teeth Broad eyebrow Broad philtrum Cerebral atrophy Shallow orbits Short palm Abnormality of the dentition Mandibular prognathia High anterior hairline Microcornea Pericarditis Brachydactyly Microdontia Short palpebral fissure Scrotal hypoplasia Cataract Broad neck External ear malformation Tented philtrum Short attention span Broad thumb Atrioventricular canal defect Mutism Hypoplastic left heart CNS hypomyelination Global brain atrophy Long toe Proximal placement of thumb Abnormality of cardiovascular system morphology Leukodystrophy Obesity Patent ductus arteriosus Weight loss Hypertrophic cardiomyopathy Attention deficit hyperactivity disorder Full cheeks Tetralogy of Fallot Transposition of the great arteries Progressive microcephaly Congenital diaphragmatic hernia Pectus carinatum Spasticity Hyperreflexia Skeletal muscle atrophy Hypertonia Babinski sign Cerebral cortical atrophy Muscular hypotonia of the trunk Generalized tonic-clonic seizures Postnatal microcephaly Radioulnar synostosis Biparietal narrowing Nail dystrophy Sparse scalp hair Congenital cataract Brain atrophy Narrow forehead Esotropia Trigonocephaly Blepharophimosis Distal sensory impairment Peripheral neuropathy Areflexia Abnormal heart morphology Constipation Gait ataxia Joint laxity Abnormality of the foot Unsteady gait Wide nose Mild microcephaly Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Duplication of thumb phalanx Cerebellar vermis hypoplasia Frontal bossing Broad forehead Laryngomalacia Cortical gyral simplification Tracheomalacia Obstructive sleep apnea Snoring Retrocerebellar cyst Uplifted earlobe Delayed myelination Apnea Dandy-Walker malformation Hydrocephalus Kyphosis Respiratory distress Autism Coarse facial features Aggressive behavior Developmental regression Synophrys Thick eyebrow Hypertension Sparse hair Low-set, posteriorly rotated ears Short chin Prominent forehead Ataxia Postnatal growth retardation Wide mouth Severe global developmental delay Open mouth Tall stature Dental crowding Sleep apnea Congenital horizontal nystagmus Hypoplasia of the brainstem Disproportionate tall stature Severe postnatal growth retardation Ulnar deviation of the hand Cleft palate Motor delay Microphthalmia Pectus excavatum Osteopenia Myopia Sparse lower eyelashes Scarring Prematurely aged appearance Short philtrum Anal atresia Depressed nasal ridge Horizontal nystagmus Hypopigmented skin patches Redundant skin Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Aplasia cutis congenita Abnormality of the sacroiliac joint Abnormal eyelash morphology Absent eyelashes Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Lacrimation abnormality Abnormality of the upper urinary tract Dimple chin Distichiasis Craniofacial asymmetry


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