Downslanted palpebral fissures, and Polymicrogyria

Diseases related with Downslanted palpebral fissures and Polymicrogyria

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


Top matches:

High match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13


MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A


Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match CEDNIK SYNDROME


CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

High match BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME


Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE


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

High 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

High match GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME


Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.

GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME Is also known as goldberg-shprintzen megacolon syndrome|goshs|megacolon-microcephaly syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME

High match DESMOSTEROLOSIS


Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DESMOSTEROLOSIS

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Polymicrogyria

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Pachygyria Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Muscular hypotonia Wide nasal bridge Motor delay Ventriculomegaly Feeding difficulties Growth delay Strabismus Talipes equinovarus Frontal bossing Anteverted nares Short nose Inguinal hernia Short stature Prominent forehead Cerebellar hypoplasia Progressive microcephaly Macrocephaly Agenesis of corpus callosum Depressed nasal bridge Pointed chin Retrognathia Cutis laxa Scoliosis High palate Intrauterine growth retardation Long philtrum Hernia Macrotia Narrow mouth Lissencephaly Telecanthus Epicanthus

Rare Symptoms - Less than 30% cases


Congenital hip dislocation Redundant skin Coarse hair Thin vermilion border Iris coloboma Highly arched eyebrow Specific learning disability Carious teeth Abnormal isoelectric focusing of serum transferrin Large fontanelles Craniosynostosis Hypertonia Hydrocephalus High myopia Dandy-Walker malformation Macrogyria Spasticity Lipodystrophy Cryptorchidism Short chin Ptosis Severe global developmental delay Absent septum pellucidum Sparse eyebrow Prominent nasal bridge Aplasia/Hypoplasia of the corpus callosum Clinodactyly Micrognathia Short neck Flexion contracture Sloping forehead Bulbous nose Protruding ear Camptodactyly Hydronephrosis Congestive heart failure Delayed speech and language development Sparse hair Cleft palate Ventricular septal defect Postnatal growth retardation Hypoplasia of the brainstem Intellectual disability, severe Wide mouth Peripheral neuropathy Intellectual disability, profound Thick vermilion border Feeding difficulties in infancy Small hand Deeply set eye Focal-onset seizure Polydactyly Everted lower lip vermilion Cortical dysplasia Malar flattening Abnormality of the skeletal system Ataxia Prominent nasolabial fold Generalized osteosclerosis Hip dysplasia Delayed closure of the anterior fontanelle Overgrowth Hypoplastic nasal bridge Ambiguous genitalia, male Pigmentary retinopathy Renal hypoplasia Gingival fibromatosis Anomalous pulmonary venous return Abnormal cortical gyration Abnormality of the nose Total anomalous pulmonary venous return Abnormality of the urinary system Redundant neck skin Overfolded helix Obsessive-compulsive behavior Cutis marmorata Large earlobe Syringomyelia Arnold-Chiari type I malformation Osteopetrosis Generalized joint laxity Narrow nose Abnormality of earlobe Vesicoureteral reflux Urinary incontinence Dilatation Prominent veins on trunk Abnormal subcutaneous fat tissue distribution Thick cerebral cortex Abnormality of the intrinsic pathway Fragmented elastic fibers in the dermis Subretinal pigment epithelium hemorrhage Abnormal apolipoprotein level Cognitive impairment Hypertension Abnormality of cholesterol metabolism Psychomotor deterioration Upslanted palpebral fissure Alveolar ridge overgrowth Hyperactivity Jaundice Thin upper lip vermilion Excessive wrinkled skin Ambiguous genitalia, female Retinopathy Broad face Thick hair Attention deficit hyperactivity disorder Broad forehead Facial asymmetry Arachnoid cyst Partial absence of the septum pellucidum Metopic synostosis Increased bone mineral density Dermal atrophy Nystagmus Relative macrocephaly Splenomegaly Syndactyly Renal hypoplasia/aplasia Patent ductus arteriosus Clinodactyly of the 5th finger Emphysema Microretrognathia Finger clinodactyly Muscle stiffness Severe short stature Posteriorly rotated ears Corneal erosion Rigidity Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Joint contracture of the hand Toe syndactyly Rhizomelia Status epilepticus Talipes Ambiguous genitalia Micromelia Bifid uvula Intestinal malrotation Limb undergrowth Corneal ulceration Megalocornea Ureterocele Synophrys Intraventricular hemorrhage Craniofacial asymmetry Renal agenesis Submucous cleft hard palate Aplasia/Hypoplasia of the skin Partial agenesis of the corpus callosum Hypospadias Constipation Bilateral talipes equinovarus Coloboma Short philtrum Finger syndactyly Abnormality of neuronal migration Thick eyebrow Bifid scrotum Tapered finger Hypoplasia of the maxilla Wide intermamillary distance Optic disc pallor Blue sclerae Sparse scalp hair Aganglionic megacolon Long eyelashes Sparse and thin eyebrow Oligodontia Metatarsus adductus Cupped ear Abnormality of the genitourinary system Decreased muscle mass Cerebral cortical atrophy Infantile muscular hypotonia Atrial septal defect Pes planus Hip dislocation Confusion Joint hypermobility Flat face Wide anterior fontanel Growth abnormality Prominent supraorbital ridges Brittle hair Severe intrauterine growth retardation Oxycephaly Cataract Cardiomyopathy Pneumonia Myopia Micropenis Hypertrophic cardiomyopathy Blepharophimosis Triangular face Sepsis Gliosis Convex nasal ridge Narrow palpebral fissure Focal impaired awareness seizure Mask-like facies Right bundle branch block Bundle branch block Disproportionate tall stature Midface retrusion Broad palm Cavum septum pellucidum Dysphagia Recurrent infections Absent speech Rod-cone dystrophy EEG abnormality Hirsutism Postaxial polydactyly Cerebellar vermis hypoplasia Encephalocele Deep philtrum Molar tooth sign on MRI Enlarged cisterna magna Infra-orbital crease Gait disturbance Hyporeflexia Toe walking Brachycephaly Kyphoscoliosis Abnormality of the foot Peripheral axonal neuropathy Inability to walk Downturned corners of mouth Tetraplegia Waddling gait Generalized-onset seizure Spastic tetraplegia Heterotopia Short toe Plagiocephaly Entropion Wide nasal base Broad nasal tip Short columella Webbed neck Low posterior hairline Mutism Trigonocephaly Hydroureter Delayed cranial suture closure Aphasia Dysphasia Long nose Long palpebral fissure Prominent metopic ridge Palpebral edema Transient ischemic attack Depressed nasal tip Full cheeks Heterochromia iridis Echolalia Optic nerve coloboma Abnormality of the upper urinary tract Subcortical cerebral atrophy Duplication of thumb phalanx Retinoschisis Cerebral cortical hemiatrophy Osteochondrosis Euryblepharon Dementia Poor speech Smooth philtrum Prominent nose Microcornea Narrow naris Polyneuropathy Hearing impairment Sensorineural hearing impairment Optic atrophy Abnormality of the dentition Areflexia Hypogonadism Proteinuria Abnormality of the eye Stroke Dolichocephaly Abnormality of eye movement Ichthyosis Long face Palmoplantar keratoderma Wide nose Nephrotic syndrome Depressed nasal ridge Intellectual disability, progressive Poor head control Abnormality of vision Palmoplantar hyperkeratosis Abnormality of peripheral nerve conduction Abnormal corpus callosum morphology Perisylvian polymicrogyria Diffuse palmoplantar keratoderma Optic disc hypoplasia Skeletal dysplasia Coarse facial features Joint stiffness 2-4 toe syndactyly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Polycystic kidney dysplasia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more