Visual impairment, and Upslanted palpebral fissure

Diseases related with Visual impairment and Upslanted palpebral fissure

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


Top matches:

Low match OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME


Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.

OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME Is also known as bbsoas|bosch-boonstra-schaaf optic atrophy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPTIC ATROPHY-INTELLECTUAL DISABILITY SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 34; MRD34

Low match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW


NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42


Autosomal recessive mental retardation-42 is a neurodevelopmental disorder characterized by severely delayed psychomotor development. Additional features are variable and include nonspecific dysmorphic facial features, hypotonia, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 Is also known as glycosylphosphatidylinositol biosynthesis defect 9|gpibd9

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

Low match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low match PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION


PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Top 5 symptoms//phenotypes associated to Visual impairment and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Delayed myelination Seizures High forehead Posteriorly rotated ears Long philtrum Epicanthus Hypertelorism Cerebral visual impairment Short stature Hearing impairment Hypoplasia of the corpus callosum Clinodactyly Deeply set eye Intellectual disability, mild Unsteady gait Prominent forehead Neonatal hypotonia Absent speech Short nose Reduced visual acuity Anteverted nares

Rare Symptoms - Less than 30% cases


Highly arched eyebrow Syndactyly Tapered finger Ptosis Myopia Hip dysplasia Cerebellar vermis hypoplasia Smooth philtrum Overlapping toe Retrognathia Sensorineural hearing impairment Sparse hair Tremor Short neck Abnormality of the dentition Thin upper lip vermilion Optic atrophy Cerebellar hypoplasia Agenesis of corpus callosum Hypothyroidism Optic disc pallor Facial hypotonia Motor delay Myopathic facies Hyperactivity Wide intermamillary distance Open mouth Broad-based gait Stereotypy Drooling Conductive hearing impairment Bilateral ptosis Muscular hypotonia of the trunk Telecanthus Bruxism Spasticity Low-set ears Talipes equinovarus Ventriculomegaly Carious teeth Wide nasal bridge Hypertension Bilateral cleft lip and palate Vertebral fusion Bilateral cleft lip Overfolded helix High anterior hairline Conical tooth Abnormal eyelid morphology Myelomeningocele Toe syndactyly Ectropion Oral cleft Neurodevelopmental delay Neoplasm Cleft palate Blindness Cleft lip Abnormality of the eye Finger syndactyly Anal atresia Cleft upper lip Flat face Reduced number of teeth Hypodontia Ectodermal dysplasia Small nail Choanal atresia Opacification of the corneal stroma Distichiasis Cutaneous syndactyly Oligodontia Abnormality of vision Abnormal hair quantity Immunodeficiency Unilateral cleft lip Hernia Acetabular dysplasia Interstitial pneumonitis Granulocytopenia Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Growth delay Atrial septal defect Microphthalmia Renal agenesis Ocular albinism Tetralogy of Fallot Congenital diaphragmatic hernia Ventricular hypertrophy Pulmonary arterial hypertension Spontaneous abortion Short chin Sandal gap Erythroderma Aplasia cutis congenita Fair hair Periodontitis Epidermoid cyst Recurrent infections Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Hepatomegaly Splenomegaly Deep philtrum Thrombocytopenia Pulmonary fibrosis Pneumonia Recurrent respiratory infections Coarse facial features Hepatosplenomegaly Photophobia Respiratory tract infection Neutropenia Recurrent bacterial infections Albinism Precocious puberty Progressive hearing impairment CNS hypomyelination Wide mouth Happy demeanor Visual field defect Hyperreflexia Hypertonia Cerebral atrophy Obsessive-compulsive behavior Macrotia Spastic paraplegia Poor eye contact Poor speech Paraplegia Retinal dystrophy Brain atrophy Abnormal electroretinogram Abnormal hand morphology Scoliosis Micrognathia Mild microcephaly Optic nerve hypoplasia Macrocephaly Abnormality of the skeletal system Short foot Oligohydramnios Postnatal microcephaly Widely spaced teeth Coarse hair 2-3 toe syndactyly Curly hair Synophrys Muscular hypotonia Dystonia Generalized tonic-clonic seizures Pes cavus Gait ataxia Difficulty walking Abnormality of the pinna Hypermetropia Single transverse palmar crease Depressed nasal bridge Behavioral abnormality Cafe-au-lait spot Edema Congenital hypothyroidism Broad columella Wide nasal base Broad distal phalanx of finger High palate Feeding difficulties Respiratory insufficiency Encephalopathy Broad thumb Myoclonus Anxiety Apnea Broad forehead Dolichocephaly Facial asymmetry Esotropia Epileptic encephalopathy Corneal dystrophy Short palpebral fissure Prominent nasal bridge Relative macrocephaly Protruding ear Midface retrusion Constipation Aggressive behavior Feeding difficulties in infancy Bilateral sensorineural hearing impairment Intellectual disability, profound Pachygyria Frontal upsweep of hair Broad nasal tip Delayed speech and language development Brachydactyly Cerebellar atrophy Alopecia Rod-cone dystrophy Diabetes mellitus Glaucoma Low-set, posteriorly rotated ears Ureteral duplication



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Corneal dystrophy, related diseases and genetic alterations Hyperreflexia and Dolichocephaly, related diseases and genetic alterations Tremor and Difficulty walking, related diseases and genetic alterations

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