Microphthalmia, and Glioma

Diseases related with Microphthalmia and Glioma

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


Top matches:

Medium match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Mendelian

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

Learn more

Other less relevant matches:

Medium match INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS


Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.

INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS Is also known as fad1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INHERITED CANCER-PREDISPOSING SYNDROME DUE TO BIALLELIC BRCA2 MUTATIONS

Medium match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

Medium match RENAL COLOBOMA SYNDROME


Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Low match MONOSOMY 9Q22.3


Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Low match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


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). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Low match CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1


Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Top 5 symptoms//phenotypes associated to Microphthalmia and Glioma

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Cataract Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Microphthalmia and Glioma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Ventriculomegaly Medulloblastoma Hearing impairment Nystagmus Long philtrum Failure to thrive Cryptorchidism Corneal opacity Cerebral calcification Coloboma Short stature Micrognathia Hypertelorism Generalized hypotonia Macrocephaly Hypoplasia of the corpus callosum Spasticity Neoplasm Intellectual disability, profound Cerebellar hypoplasia Agenesis of corpus callosum Hypertonia Basal cell carcinoma Gliosis Polydactyly Abnormal facial shape Muscular hypotonia Visual impairment Retinopathy Strabismus Glaucoma Kyphoscoliosis Iris coloboma Congenital cataract Brachycephaly Epicanthus Nevus Growth delay Low-set ears Pectus excavatum Blepharophimosis

Rare Symptoms - Less than 30% cases


Palmar pits Long fingers Telecanthus Nephritis Abnormality of the ribs Oral cleft Proteinuria Orbital cyst Syndactyly Downslanted palpebral fissures Wide nasal bridge Motor delay Cleft palate Scoliosis Carcinoma Polymicrogyria Calcification of falx cerebri Renal insufficiency Sloping forehead Neuronal loss in central nervous system Muscular hypotonia of the trunk Intellectual disability, severe Hyperreflexia Wide intermamillary distance High palate Umbilical hernia Narrow mouth Kyphosis Short neck Joint hyperflexibility Edema Ovarian fibroma Sensorineural hearing impairment Optic nerve coloboma Arnold-Chiari type I malformation Generalized hirsutism Abnormality of the skin Microcornea Hirsutism Skin tags Horseshoe kidney Renal hypoplasia Anemia Cardiac fibroma Plantar pits Astrocytoma Odontogenic keratocysts of the jaw Delayed speech and language development Hamartoma Dandy-Walker malformation Osteoporosis Lipoma Papule Hypotrichosis Joint laxity Cerebral cortical atrophy Tetraplegia Abnormality of the face Ventricular septal defect Intellectual disability, mild Hemiparesis Hydronephrosis Muscle stiffness Recurrent fractures Arachnoid cyst Increased susceptibility to fractures Short nose Inability to walk Metaphyseal widening Feeding difficulties Pathologic fracture Ureterovesical junction obstruction Recurrent pyelonephritis Hyperactivity Accelerated skeletal maturation Joint hypermobility Platyspondyly Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Hypospadias Hernia Abnormality of cardiovascular system morphology Congestive heart failure Depressed nasal bridge Thickened ears Delayed eruption of teeth Metopic synostosis Rhabdomyosarcoma Abnormality of the vertebral column Large for gestational age Nephroblastoma Trigonocephaly Arnold-Chiari malformation Tall stature Macular hyperpigmentation Optic nerve dysplasia Morning glory anomaly Stage 5 chronic kidney disease Nephrolithiasis Renal dysplasia Abnormality of the genital system Progressive visual loss Vesicoureteral reflux Vitreoretinopathy Retinal detachment Nephropathy Confusion Macular degeneration Barrel-shaped chest Abnormality of the kidney Reduced visual acuity Retinal dysplasia Myopia Hypertension Vitreous hemorrhage Abnormality of thumb phalanx Duplication of thumb phalanx Multicystic kidney dysplasia Abnormality of the genitourinary system Renal malrotation High-frequency hearing impairment Scleral staphyloma High forehead Mild proteinuria Bilateral renal hypoplasia Lens luxation Platybasia Pyelonephritis Ureteropelvic junction obstruction Retinal coloboma Chronic kidney disease Hydrocele testis Elevated serum creatinine Multiple renal cysts Abnormality of the vasculature Soft skin Severe vision loss Chorioretinal atrophy Visual field defect Hyperextensible skin Upslanted palpebral fissure Flat face Low-set, posteriorly rotated ears Microretrognathia Macrotia Flexion contracture Congenital microcephaly Increased CSF protein Petechiae Lissencephaly Spastic tetraparesis Purpura Opacification of the corneal stroma Camptodactyly Cerebral visual impairment Decreased liver function Postnatal microcephaly Pachygyria Tetraparesis Status epilepticus Muscle weakness Abnormality of movement Deeply set eye Prominent nasal bridge Skin rash Coxa valga Deep longitudinal plantar crease Long ear Miosis Osteopetrosis Abnormality of the ear Rocker bottom foot Congenital muscular dystrophy Knee flexion contracture Elbow flexion contracture Muscular dystrophy Joint contracture of the hand Insulin resistance Cutaneous photosensitivity Peripheral demyelination Prominent nose Delayed myelination Neurodegeneration Thin vermilion border Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Abnormality of the liver Abnormality of the pinna Thickened skin Cerebellar vermis atrophy Abnormality of the musculature Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Scrotal hypoplasia Cutis laxa Hypoplasia of dental enamel Hypoplastic nipples Hypertrichosis Short palpebral fissure Febrile seizures Osteopenia Full cheeks Cutaneous syndactyly of toes Severe global developmental delay Microtia Neuroblastoma Irregular hyperpigmentation Hypertrophic cardiomyopathy Anteverted nares Blindness Elevated hepatic transaminase Hepatosplenomegaly Jaundice Micropenis Thrombocytopenia Splenomegaly Cardiomyopathy Fever External ear malformation Hepatomegaly Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry Hemimegalencephaly Cutaneous finger syndactyly Anterior plagiocephaly Visual loss EEG abnormality Coarse facial features Retrognathia Mandibular prognathia Proptosis Sacral dimple Abdominal pain Hemangioma Mutism Aortic valve stenosis Hemiplegia Abnormality of the dentition Abnormality of the skeletal system Frontal bossing Lipodystrophy Aphasia Brachydactyly Dysarthria Osteolysis Cleft lip Cortical dysplasia Hyperpigmentation of the skin Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Short ribs Spina bifida Bradycardia Exotropia Facial palsy Hypotension Palmoplantar keratoderma Postaxial polydactyly Subcutaneous nodule Cleft upper lip Arachnodactyly Carious teeth Sparse hair Dysphasia Pain Melanocytic nevus Xanthomatosis Visceral angiomatosis Interrupted aortic arch Porencephalic cyst Bone cyst Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Craniofacial hyperostosis Nevus flammeus Hemihypertrophy Alopecia areata Echolalia Ectopia pupillae Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Abnormal eyelash morphology Sclerocornea Capillary hemangioma Abnormal aortic morphology Abnormal anterior chamber morphology Multiple lipomas Odontoma Absent septum pellucidum Aplasia cutis congenita Ataxia Hypoplasia of the iris Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Neurodevelopmental abnormality Subcortical cerebral atrophy Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Subcutaneous lipoma Tricuspid valve prolapse Epibulbar dermoid Abnormal nasolacrimal system morphology Glomerulonephritis Inflammation of the large intestine Retinoblastoma Anteriorly placed anus Craniosynostosis Ptosis Cerebral atrophy T-cell acute lymphoblastic leukemias Chromosomal breakage induced by crosslinking agents Peters anomaly Chromosome breakage Acute leukemia Acute myeloid leukemia Finger syndactyly Myelodysplasia Breast carcinoma Alopecia Bone marrow hypocellularity Cafe-au-lait spot Short thumb Esotropia Anal atresia Behavioral abnormality Toe syndactyly Intrauterine growth retardation Bilateral ptosis Chronic constipation Iris atrophy Foot polydactyly Anal stenosis Abnormality of the skull Aplasia/Hypoplasia of the skin Preaxial hand polydactyly Preaxial polydactyly Hypopigmented skin patches Facial asymmetry Narrow palpebral fissure Phthisis bulbi Horizontal nystagmus Broad thumb Severe platyspondyly Intestinal malrotation Absent anterior chamber of the eye Atrial septal defect Leukemia Skeletal dysplasia Disproportionate tall stature Narrow nose Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Fragile nails Sprengel anomaly Supernumerary ribs Thoracic scoliosis Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Coarctation of aorta Pulmonary arterial hypertension Milia Ectopic calcification Cervical ribs Rigidity Curved fingers Hamartomatous stomach polyps Irregular ossification of hand bones Bridged sella turcica Paralysis Scarring Neurological speech impairment Cardiac rhabdomyoma Bifid ribs Histiocytoma Hamartomatous polyposis Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Second metatarsal posteriorly placed



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more