Hypertelorism, and Glioma

Diseases related with Hypertelorism and Glioma

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

Top matches:

NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Other less relevant matches:

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

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

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

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

Top 5 symptoms//phenotypes associated to Hypertelorism and Glioma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Neoplasm

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Cafe-au-lait spot Leukemia Generalized hypotonia Growth delay Abnormal facial shape Short stature Frontal bossing Hydrocephalus Ptosis Delayed speech and language development Overgrowth Short nose Pain Hearing impairment Gliosis Micrognathia Long philtrum Carcinoma Cataract Astrocytoma Abnormality of the skeletal system Intellectual disability, mild Ventriculomegaly Abnormality of cardiovascular system morphology Pectus excavatum Nystagmus Optic nerve glioma Facial asymmetry Inguinal freckling Cognitive impairment Downslanted palpebral fissures Multiple cafe-au-lait spots Atrial septal defect Low-set ears Specific learning disability Neurofibromas Medulloblastoma Epicanthus Lisch nodules Axillary freckling

Rare Symptoms - Less than 30% cases

Peripheral demyelination Hypopigmented skin patches Cerebral atrophy Long face Incoordination Xanthinuria Breast carcinoma Thick vermilion border Full cheeks Polymicrogyria Spina bifida Increased urinary taurine Spastic tetraplegia Molybdenum cofactor deficiency Spastic tetraparesis Lymphoma Hypoplasia of the corpus callosum Broad thumb Ectopia lentis Opisthotonus Axonal loss Lens luxation Myoclonic spasms Increased urinary hypoxanthine Hypouricemia Tetraparesis Papule Renal cell carcinoma Brachycephaly Iris coloboma Palmoplantar keratoderma Hypotension Exotropia Hyperpigmentation of the skin Neoplasm of the skin Melanocytic nevus EEG abnormality Kyphoscoliosis Basal cell carcinoma Skin tags Polydactyly Microphthalmia Feeding difficulties Syndactyly Hamartomatous polyposis Fibroma Brachydactyly Motor delay Ovarian carcinoma Acute myeloid leukemia Ataxia Failure to thrive Neoplasm of the central nervous system Coloboma Brain neoplasm Meningioma Osteopenia Neoplasm of the endocrine system Autism Weight loss Neurofibrosarcoma Subcutaneous neurofibromas Bone cyst Irritability Joint hypermobility Attention deficit hyperactivity disorder Coarse facial features Abnormal heart morphology Strabismus Spinal neurofibromas Broad neck Freckling Relative macrocephaly Pulmonic stenosis Telecanthus Malar flattening Short neck Cryptorchidism Muscle weakness Plexiform neurofibroma Spasticity Anemia Headache Dysarthria Visual loss Dilatation Osteoporosis Xanthine nephrolithiasis Glaucoma Transitional cell carcinoma of the bladder Enlarged polycystic ovaries Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Papilloma Cavernous hemangioma Subcutaneous lipoma Long penis Hypertonic dehydration Abnormality of the anterior pituitary Cellular immunodeficiency Intestinal polyposis Ovarian cyst Abnormality of the uterus Histiocytosis Nocturia Acrokeratosis Endometrial carcinoma Central diabetes insipidus Neoplasm of the thyroid gland Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Follicular thyroid carcinoma Abnormality of the penis Pollakisuria Varicocele Decreased urinary sulfate Thyroid adenoma Fibroadenoma of the breast Furrowed tongue Angioid streaks of the fundus Intestinal polyp Hydrocele testis Arteriovenous malformation Increased intracranial pressure Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Palmoplantar hyperkeratosis Goiter Melanoma Cardiorespiratory arrest Hemangioma Macule Drooling Cranial nerve paralysis Lymphopenia Gynecomastia Chronic diarrhea Telangiectasia Subcutaneous nodule Sulfite oxidase deficiency Cutis marmorata Abnormality of the thyroid gland Enuresis Lipoma Abnormal muscle tone Germinoma Megalencephaly Prolactin excess Papilledema Encephalopathy Abnormality of the vasculature Scaphocephaly Multiple lipomas Hashimoto thyroiditis Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cellulitis Cystic hygroma Cutis marmorata telangiectatica congenita Enlarged cerebellum Brain atrophy Anal stenosis Dry skin Cutaneous syndactyly of toes Anterior plagiocephaly Optic nerve coloboma Chronic constipation Arnold-Chiari type I malformation Foot polydactyly Cutaneous finger syndactyly Hemimegalencephaly Aplasia/Hypoplasia of the skin Preaxial hand polydactyly Preaxial polydactyly Bilateral ptosis Narrow palpebral fissure Generalized hirsutism Confusion Horizontal nystagmus Lethargy Decreased antibody level in blood Intestinal malrotation Vomiting Fever Aldehyde oxidase deficiency Fatigue Neuronal loss in central nervous system Absent urinary urothione Severe global developmental delay Feeding difficulties in infancy Deeply set eye Abnormality of metabolism/homeostasis Autoimmunity Constipation Hypertonia Decreased urinary urate Diabetes mellitus Hyperreflexia Progressive microcephaly Abnormality of thumb phalanx Duplication of thumb phalanx Abnormality of the skin Microcornea Trichilemmoma Polyuria Polydipsia Anal atresia Increased urinary thiosulfate Small for gestational age Postnatal growth retardation Ventricular septal defect Reduced xanthine dehydrogenase activity Increased urinary sulfite Dehydration Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Diabetes insipidus Orthostatic hypotension Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Hemiplegia Short thumb Hirsutism Embryonal neoplasm Toe syndactyly Finger syndactyly Blepharophimosis Craniosynostosis Agenesis of corpus callosum Vertigo Wide nose Chromosomal breakage induced by crosslinking agents Acute monocytic leukemia Poor head control Aplastic anemia Chromosome breakage Neuroblastoma Coma Nephroblastoma Syncope Growth hormone deficiency Bone marrow hypocellularity Intention tremor Down-sloping shoulders Macroglossia Sensorimotor neuropathy Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Back pain Sarcoma Reduced bone mineral density Venous thrombosis Atherosclerosis Bone pain Tibial bowing Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Tetralogy of Fallot Gastrointestinal hemorrhage Recurrent fractures Abnormality of skin pigmentation Pulmonary fibrosis Osteomalacia Paresthesia Carcinoid tumor Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Nasolacrimal duct obstruction Rhabdomyosarcoma Paraganglioma Severe vision loss Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Myocardial fibrosis Gangrene Increased reactive oxygen species production Overweight Peripheral axonal neuropathy Genu valgum Epigastric pain Prominent nasolabial fold Sparse and thin eyebrow Tall stature Hypoplasia of dental enamel Thin vermilion border Joint hyperflexibility Thin upper lip vermilion Pes cavus Muscular hypotonia Pectus excavatum of inferior sternum Superior pectus carinatum Sparse eyelashes Secundum atrial septal defect Acute lymphoblastic leukemia Cubitus valgus Low posterior hairline Wide intermamillary distance Webbed neck Posteriorly rotated ears Midface retrusion Depressed nasal bridge Abnormality of dental enamel Large hands Malabsorption Cardiomyopathy Pruritus Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Hyperactivity Depressivity Behavioral abnormality Blindness Respiratory insufficiency Alopecia of scalp Peripheral neuropathy Hypertension Visual impairment Focal T2 hyperintense basal ganglia lesion Deviated nasal septum Overbite Thick nasal alae Bifid nose Long foot Macroorchidism Dural ectasia Soft tissue sarcoma Abnormal cerebellum morphology Vertebral wedging Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Abnormality of the sense of smell Cardiac rhabdomyoma Cervical ribs Supernumerary ribs Ectopic calcification Ulcerative colitis Broad face Abnormality of the neck Short 4th metacarpal Fragile nails Narrow nose Bifid ribs Odontogenic keratocysts of the jaw Thoracic scoliosis Kyphosis Hypoplasia of the maxilla Nausea and vomiting Abnormality of the kidney Intellectual disability, moderate Proximal muscle weakness Hypothyroidism Narrow mouth Recurrent infections Immunodeficiency Diarrhea Ovarian fibroma Myopathy Tremor Skeletal muscle atrophy Myopia High palate Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Sprengel anomaly Abnormality of the sternum Pseudoarthrosis Cleft palate Facial palsy Cleft lip Proteinuria Retrognathia Mandibular prognathia Proptosis Abdominal pain Abnormality of the dentition Wide nasal bridge Brow ptosis Hypotrichosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Acute promyelocytic leukemia Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Renovascular hypertension Renal artery stenosis Single ventricle Sparse hair Carious teeth Colitis Hemivertebrae Vertebral fusion Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Spina bifida occulta Hypogonadotrophic hypogonadism Arachnodactyly Muscle stiffness Short ribs Bradycardia Hemiparesis Abnormality of the ribs Cerebral calcification Nevus Postaxial polydactyly Oral cleft Cleft upper lip Diffuse cerebral atrophy


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