Microcephaly, and Retinal detachment

Diseases related with Microcephaly and Retinal detachment

In the following list you will find some of the most common rare diseases related to Microcephaly and Retinal detachment that can help you solving undiagnosed cases.

Top matches:

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness.

FAMILIAL EXUDATIVE VITREORETINOPATHY Is also known as fevr, autosomal dominant|criswick-schepens syndrome|exudative vitreoretinopathy, familial, autosomal dominant|fevr

Related symptoms:

  • Microcephaly
  • Cataract
  • Blindness
  • Glaucoma
  • Reduced visual acuity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL EXUDATIVE VITREORETINOPATHY

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Abnormal facial shape
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Other less relevant matches:

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Medium match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Medium match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Top 5 symptoms//phenotypes associated to Microcephaly and Retinal detachment

Symptoms // Phenotype % cases
Microphthalmia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Glaucoma Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microcephaly and Retinal detachment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Retinopathy

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Visual impairment Spasticity Protruding ear Hypertonia Nystagmus Dilatation Blindness Chorioretinal dysplasia Abnormality of the nervous system Strabismus Retinal fold Lymphedema Corneal opacity Vitreoretinopathy Myopia Muscular hypotonia Cerebellar hypoplasia Retinal dysplasia Intellectual disability, severe Growth delay Short stature Retinal dystrophy Visual loss Hypoplasia of the corpus callosum Congenital cataract Generalized hypotonia Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Abnormality of skin pigmentation Epicanthus Neoplasm Sloping forehead Microcornea Abnormal eyelash morphology Pointed chin Failure to thrive Abnormality of retinal pigmentation Abnormality of neuronal migration Abnormality of the eye Aplasia/Hypoplasia of the cerebellum Cerebral cortical atrophy Phthisis bulbi Remnants of the hyaloid vascular system Macrocephaly Agenesis of corpus callosum Posteriorly rotated ears Tetraplegia Migraine Abnormality of the cerebral white matter Hydrocephalus Ventriculomegaly Dementia Elevated serum creatine phosphokinase Depressivity Flexion contracture Specific learning disability Low-set ears Hearing impairment Polymicrogyria Hypertelorism Congenital glaucoma Abnormality of the optic nerve Anophthalmia Anterior synechiae of the anterior chamber Amblyopia Retinal hemorrhage Hypoplasia of the iris Pachygyria Cerebral atrophy Intellectual disability, profound Abnormality of the vasculature Muscle weakness Retinopathy of prematurity Cryptorchidism Exudative vitreoretinopathy Abnormal facial shape Macrotia Optic nerve hypoplasia Micrognathia Deeply set eye Severe short stature Diabetes mellitus Anteverted nares Hypopigmentation of the skin Wide nasal bridge Reduced visual acuity Hyperreflexia Scoliosis Alopecia Clonus Vascular neoplasm EEG abnormality Nail pits Cleft palate Self-injurious behavior Anxiety Anterior chamber synechiae Progressive hearing impairment Neoplasm of the eye Uterine rupture Autism Myoclonus Skeletal muscle atrophy Aplasia/Hypoplasia of the lens Frontal bossing Retinal vascular proliferation Hyperpigmented streaks Malar flattening Ectopia lentis Hypohidrotic ectodermal dysplasia Behavioral abnormality Cachexia Sensorineural hearing impairment Atrophic, patchy alopecia Myopathy Aggressive behavior Abnormal cochlea morphology Hallucinations Abnormal pupil morphology Stereotypy Psychosis Opacification of the corneal stroma Hypotelorism Abnormal retinal morphology Narrow nasal bridge Abnormality of immune system physiology Sleep disturbance Severe vision loss Sclerocornea Thin vermilion border Abnormality of the helix Abnormality of the retinal vasculature Venous insufficiency Developmental regression Retinoblastoma Retinal degeneration Confusion Shallow anterior chamber Abnormal chorioretinal morphology Delayed puberty Attention deficit hyperactivity disorder Intellectual disability, progressive Erectile abnormalities Posterior synechiae of the anterior chamber Irritability Abnormal vitreous humor morphology Corneal degeneration Abnormality of the diencephalon Leukocoria Congenital contracture Areflexia Delayed speech and language development Short distal phalanx of finger Bulbous nose Muscular hypotonia of the trunk Abnormal heart morphology Syndactyly Brachydactyly Depressed nasal bridge Abnormal aldolase level Single transverse palmar crease Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Abnormal lactate dehydrogenase activity Macrogyria Severe hydrocephalus Metatarsus valgus Abnormality of the cerebellar vermis Short foot Gliosis Hypoglycosylation of alpha-dystroglycan Short finger Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Cutis marmorata Wide intermamillary distance Dermal atrophy Cerebral palsy Narrow palpebral fissure Low anterior hairline Wide anterior fontanel Blue sclerae Small nail Oligohydramnios Abnormal levels of creatine kinase in blood Meningoencephalocele Hyporeflexia Iris coloboma Renal dysplasia Heterotopia Encephalocele Cerebellar vermis hypoplasia Hypoplasia of penis Dandy-Walker malformation Bifid uvula Oral cleft Lissencephaly Cleft upper lip Anal atresia Muscular dystrophy Microtia Coloboma Cleft lip Hydronephrosis Proptosis Severe muscular hypotonia Atresia of the external auditory canal Posterior fossa cyst Buphthalmos Excessive daytime sleepiness Agyria Cerebellar cyst Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Peters anomaly Aqueductal stenosis Abnormal cortical gyration Supernumerary ribs Bilateral cleft lip Megalocornea Retinal atrophy Submucous cleft hard palate Occipital encephalocele Absent septum pellucidum Hypoplasia of the brainstem Congenital muscular dystrophy Scarring alopecia of scalp Fever Breast aplasia Wide nose Skin ulcer Thickened skin Subcutaneous nodule Status epilepticus Lymphoma Full cheeks Thick vermilion border Dry skin Muscle stiffness Leukemia Rigidity Upslanted palpebral fissure Long philtrum Edema Atrial septal defect Ptosis Abnormality of the hair Venous thrombosis Cortical gyral simplification Chylothorax Cerebellar atrophy Cardiomyopathy Dysarthria Melanonychia Panniculitis Erysipelas Abnormal nasolacrimal system morphology Leukonychia Abnormality of vision Abnormal toenail morphology Abnormal eyelid morphology Gangrene Underdeveloped supraorbital ridges Cellulitis Pleural effusion Scaling skin Biparietal narrowing Cone/cone-rod dystrophy Headache Falciform retinal fold Hypertension Congenital microcephaly Chorioretinal atrophy Retrognathia Downslanted palpebral fissures Peripheral retinal neovascularization Peripheral retinal avascularization Posterior vitreous detachment Hepatic steatosis Rhegmatogenous retinal detachment Retinal neovascularization Exudative retinal detachment Retinal exudate Vitreous hemorrhage Subcapsular cataract Recurrent fractures Congestive heart failure Ventricular hypertrophy Optic disc pallor Skin tags Pigmentary retinopathy Elevated serum alanine aminotransferase Elevated serum aspartate aminotransferase Abdominal aortic aneurysm Acute pancreatitis Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Insulin-resistant diabetes mellitus Hypertriglyceridemia Slender long bone Glycosuria Glucose intolerance Cone-shaped epiphysis Aortic aneurysm Metaphyseal widening Acanthosis nigricans Microretrognathia Intellectual disability, mild Facial palsy Breast hypoplasia Scarring Nevus Hypodontia Delayed eruption of teeth Malabsorption Nail dystrophy Papule Skin rash Sparse hair Nail dysplasia Erythema Pallor Kyphoscoliosis Hyperkeratosis Recurrent infections Immunodeficiency Abnormality of the dentition Ectodermal dysplasia Abnormal blistering of the skin Posterior leukoencephalopathy Uveitis Generalized osteosclerosis Thick nail Ridged nail Conical tooth Anodontia Hypoplasia of the fovea Pustule Hypoplastic nipples Fine hair Supernumerary nipple Hyperostosis Keratitis Coarse hair Eosinophilia Hemivertebrae Increased bone mineral density Hyperpigmentation of the skin Thalamic hemorrhage Retinal arterial tortuosity Stroke Hemiparesis Cerebral hemorrhage Hemiplegia Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Spastic tetraplegia Scotoma Muscle cramps Renal cyst Nephropathy Hematuria Tachycardia Astigmatism Hypermetropia Blurred vision Infantile spasms Right hemiplegia Arterial tortuosity Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Neuritis Posterior embryotoxon Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior segment developmental abnormality Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Retinal nonattachment


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