Visual impairment, and Hypertrichosis

Diseases related with Visual impairment and Hypertrichosis

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


Top matches:

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Low match EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME


Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge
  • Anteverted nares


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY-CORTICAL BLINDNESS-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 8


Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

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Other less relevant matches:

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 COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Low match COFFIN-SIRIS SYNDROME 3; CSS3


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

Low match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Top 5 symptoms//phenotypes associated to Visual impairment and Hypertrichosis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Visual impairment and Hypertrichosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Depressed nasal bridge Synophrys Thick eyebrow Nystagmus Wide mouth Cerebral visual impairment Long eyelashes Scoliosis Abnormal facial shape Feeding difficulties Wide nose Macroglossia Abnormality of cardiovascular system morphology Sparse scalp hair Aplasia/Hypoplasia of the distal phalanges of the hand Hypertelorism Thick vermilion border Abnormal corpus callosum morphology Poor speech Delayed skeletal maturation Short stature Delayed speech and language development Absent speech Low-set ears Intrauterine growth retardation Coarse facial features

Rare Symptoms - Less than 30% cases


Motor delay Broad-based gait Generalized tonic-clonic seizures Abnormal heart morphology Ptosis Muscular hypotonia Hirsutism Dandy-Walker malformation Astigmatism Strabismus Cryptorchidism Anemia Autism Constipation Autistic behavior Downturned corners of mouth Sparse hair Postnatal microcephaly High palate Myopia Epileptic encephalopathy Short philtrum Abnormality of the pinna Hyperreflexia Hypsarrhythmia Hypoplasia of the corpus callosum Spasticity Low anterior hairline Muscular hypotonia of the trunk Wide nasal bridge Cerebellar hypoplasia Hypermetropia Status epilepticus Prominent nasal bridge Oligodontia Cutis laxa Optic nerve hypoplasia Anxiety Developmental regression Microcytic anemia Erythroderma Abnormality of coagulation Deeply set eye Hyperactivity Type I transferrin isoform profile Macrocephaly Anterior pituitary hypoplasia Sensorineural hearing impairment Lacrimal duct aplasia Delayed eruption of permanent teeth Inflammatory abnormality of the skin Hyperkeratosis Cerebellar vermis hypoplasia Agenesis of corpus callosum Visual loss Cerebellar atrophy Absent fifth fingernail Absent fifth toenail Elevated hepatic transaminase Coloboma Shortening of all distal phalanges of the fingers Thick lower lip vermilion Ichthyosis Small nail Highly arched eyebrow High forehead Recurrent infections Brachycephaly Abnormality of skin pigmentation Brachydactyly Polymicrogyria Asymmetry of the ears Lumbar scoliosis Chronic constipation Self-injurious behavior Open mouth Delayed myelination Pectus carinatum Palmoplantar keratoderma Eczema Prominent interphalangeal joints Cerebral cortical atrophy Enlarged cisterna magna Talipes equinovarus Hypoplasia of the brainstem Involuntary movements Esotropia Chorea Abnormality of the foot Arthrogryposis multiplex congenita Severe global developmental delay Gastroesophageal reflux Gait ataxia Pes cavus Dysphagia Epicanthus Flexion contracture Failure to thrive Periorbital fullness Hypoplasia of the pons Narrow forehead Broad nasal tip Abnormality of the cerebral white matter Telecanthus Blindness No social interaction Talipes valgus Syndactyly Delayed ability to walk Curly hair Obsessive-compulsive behavior Generalized myoclonic seizures Neutropenia Abnormal cardiac septum morphology Thin upper lip vermilion Behavioral abnormality Downslanted palpebral fissures Thick nasal alae Neuronal loss in central nervous system Bruxism Myopathic facies Upslanted palpebral fissure 2-3 toe syndactyly Bilateral ptosis Coarse hair Drooling Widely spaced teeth Stereotypy Oligohydramnios Wide intermamillary distance Short foot Smooth philtrum Toe syndactyly Reduced antithrombin III activity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Gliosis, related diseases and genetic alterations Neuroblastoma and Ectodermal dysplasia, related diseases and genetic alterations Hyperreflexia and Bradykinesia, related diseases and genetic alterations

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