Abnormal facial shape, and Glioma

Diseases related with Abnormal facial shape and Glioma

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


Top matches:

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match 17Q11.2 MICRODUPLICATION SYNDROME


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

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Other less relevant matches:

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


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

Low match X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME


X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted.

X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME Is also known as mental retardation, x-linked 35|mrx35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-SHORT STATURE-OVERWEIGHT SYNDROME

Low 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

Low match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32


Combined oxidative phosphorylation deficiency-32 is an autosomal recessive neurodegenerative disorder characterized by onset of delayed psychomotor development and developmental regression in infancy. Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem consistent with Leigh syndrome (OMIM ). Patient cells showed decreased activities of mitochondrial respiratory chain complexes, I, III, and IV, as well as impaired mitochondrial translation (summary by Lake et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Glioma

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Glioma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hearing impairment Generalized hypotonia Neoplasm Cognitive impairment Cataract Delayed speech and language development Visual loss Hydrocephalus Abnormality of the skeletal system Cardiomyopathy Scoliosis Ptosis Pain Dysarthria Cryptorchidism Astrocytoma Nystagmus Hypertelorism Micrognathia Cleft palate Spasticity Abnormality of cardiovascular system morphology Anemia Neurofibromas Macrocephaly Glaucoma Facial asymmetry Attention deficit hyperactivity disorder Ventriculomegaly Abnormal heart morphology Pectus excavatum Coarse facial features Tremor Gliosis Hypertension Peripheral neuropathy Kyphoscoliosis Intellectual disability, mild Mandibular prognathia Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Oral cleft Pes cavus Bulbous nose Cleft upper lip Prominent nasal bridge Joint hypermobility Specific learning disability Arachnodactyly Pulmonic stenosis Overgrowth Cafe-au-lait spot Long fingers Behavioral abnormality Vertebral fusion Abnormality of the sternum Axillary freckling Low-set ears Spina bifida Neoplasm of the endocrine system Brain neoplasm Exotropia Feeding difficulties Increased serum lactate Histiocytoma Lisch nodules Cleft lip Sparse hair Ataxia Deeply set eye High forehead Hypothyroidism Obesity Midface retrusion Long philtrum Hypoplasia of the corpus callosum Small for gestational age Dilated cardiomyopathy Gait disturbance Leiomyosarcoma Intrauterine growth retardation Hypermetropia Long face Inguinal freckling Subcutaneous neurofibromas Spinal neurofibromas Plexiform neurofibroma Neurofibrosarcoma Optic nerve glioma Hypotelorism Sensory axonal neuropathy Truncal obesity Gastrointestinal stroma tumor Failure to thrive Motor delay Epicanthus Abnormality of the dentition Depressivity Hyperactivity Soft tissue sarcoma Absent speech Blindness Abnormality of lipid metabolism High pitched voice Long foot Malar flattening Headache Weight loss Proptosis Acanthosis nigricans Insulin resistance Sarcoma Epidermal acanthosis Carcinoma Lymphoma Diabetes mellitus Abnormality of skin pigmentation Tall stature Large hands Clitoral hypertrophy Bone cyst Hernia Dilatation Visual impairment Vomiting Leukemia Abnormality of the genital system Triangular face Macrotia Night sweats Pheochromocytoma Paraganglioma Anomalous pulmonary venous return Carcinoid tumor Aqueductal stenosis Complete atrioventricular canal defect Myocardial fibrosis Hyperhidrosis Meningioma Parathyroid adenoma Schwannoma Rhabdomyosarcoma Neuroma Brachydactyly Increased body mass index Cervical cord compression Microphallus Cerebellar hypoplasia Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Acute promyelocytic leukemia Vestibular Schwannoma Nasolacrimal duct obstruction Embryonal rhabdomyosarcoma Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Epigastric pain Dural ectasia Fibular bowing Neoplasm of the central nervous system Chronic myelogenous leukemia Renal phosphate wasting Gangrene Anisocoria Increased reactive oxygen species production Umbilical hernia Paresthesia Genu valgum Malabsorption Pruritus Paralysis Autistic behavior Hypoglycemia Osteopenia Autism Osteoporosis Respiratory insufficiency Recurrent fractures Hypotrophy of the small hand muscles Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Multifocal epileptiform discharges Expressive language delay Prominent fingertip pads Peripheral axonal neuropathy Gastrointestinal hemorrhage Overweight Back pain Severe vision loss Renal cell carcinoma Osteomalacia Multiple cafe-au-lait spots Downslanted palpebral fissures Freckling Tibial bowing Pulmonary fibrosis Hypophosphatemia Precocious puberty Incoordination Tetralogy of Fallot Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Sensorimotor neuropathy Bone pain Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Mitral valve prolapse Abnormality of the cardiovascular system Wide nasal bridge Telecanthus Frontal bossing Palmar pits Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Calcification of falx cerebri Orbital cyst Short distal phalanx of the thumb Irregular ossification of hand bones Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Cardiac fibroma Hamartomatous stomach polyps Medulloblastoma Hyperreflexia Choreoathetosis Inability to walk Lethargy Irritability Developmental regression Muscular hypotonia of the trunk Gastroesophageal reflux Constipation Dystonia Optic atrophy Flexion contracture Congestive heart failure Hyperalaninemia Left ventricular noncompaction Neuronal loss in central nervous system Hepatomegaly Lactic acidosis Wide mouth Acidosis Hypertonia Anteverted nares Depressed nasal bridge Ectopic calcification Ulcerative colitis Syndactyly Hypotrichosis Splenomegaly Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Postaxial polydactyly Iris coloboma Carious teeth Papule Bradycardia Coloboma Facial palsy Anteverted ears Proteinuria EEG abnormality Retrognathia Polydactyly Abdominal pain Brachycephaly Microphthalmia Hyperpigmentation of the skin Short ribs Broad face Basal cell carcinoma Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Colitis Agenesis of permanent teeth Milia Muscle stiffness Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hemivertebrae Hypogonadotrophic hypogonadism Chronic infection Elbow dislocation Abnormality of the head Acute pancreatitis Babinski sign Inguinal hernia Clinodactyly Oligomenorrhea Thrombocytopenia Recurrent infections Immunodeficiency Angina pectoris Abnormality of the ovary Generalized lipodystrophy Hypogonadism Decreased fertility in females Congenital generalized lipodystrophy Decreased serum leptin Sensorineural hearing impairment Growth delay Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Reduced intrathoracic adipose tissue Focal T2 hyperintense basal ganglia lesion Cystic angiomatosis of bone Severe short stature Micropenis Labial hypertrophy Falls Pigmentary retinopathy Limb undergrowth Decreased testicular size Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Broad nasal tip Polyneuropathy Sensory neuropathy Lipodystrophy Insulin-resistant diabetes mellitus Dysmetria Synophrys Skeletal muscle hypertrophy Short philtrum Abnormal pyramidal sign Retinopathy Polyphagia Postnatal growth retardation Rigidity Lipoatrophy Deviated nasal septum Generalized muscular appearance from birth Sloping forehead Ewing sarcoma Buphthalmos Inflammatory abnormality of the eye Retinoblastoma Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Hyphema Anemia of inadequate production Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Vitreous hemorrhage Vitritis Burkitt lymphoma Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Acute monocytic leukemia Osteosarcoma Overbite Thin vermilion border Thick nasal alae Bifid nose Macroorchidism Broad neck Alopecia of scalp Sparse eyelashes Abnormality of dental enamel Sparse and thin eyebrow Hypoplasia of dental enamel Joint hyperflexibility Chromosome breakage Skin rash Thin upper lip vermilion Postural instability Anorexia Increased intracranial pressure Myelodysplasia Cellulitis Acute myeloid leukemia Uveitis Muscular hypotonia Bradykinesia Hyperinsulinemia Abnormality of hair texture Everted lower lip vermilion Open mouth Status epilepticus Eczema Hip dysplasia Wide intermamillary distance Focal-onset seizure Otitis media Underdeveloped nasal alae Vesicoureteral reflux Small hand Narrow palate High, narrow palate Cirrhosis Hirsutism Hepatic steatosis Dry skin Nephropathy Poor speech Abnormality of the foot Hip dislocation Broad forehead Heterotopia Joint dislocation Scarring Sparse eyebrow Spondylolisthesis Prominent metopic ridge Slender finger Hepatosplenomegaly Elevated hepatic transaminase Autoimmunity Cortical dysplasia Impulsivity Overfolded helix Ocular pain Narrow palpebral fissure Aortic aneurysm Failure to thrive in infancy Pyloric stenosis Nasal speech Abnormality of the urinary system Laryngomalacia Abnormality of the genitourinary system Bicuspid aortic valve Sacral dimple Widely spaced teeth Abnormal cardiac septum morphology Blepharophimosis Apraxia Dysdiadochokinesis Cerebellar vermis atrophy Long nose Hyperlipidemia Cortical gyral simplification Ectopic kidney Polycystic ovaries Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Slurred speech Low hanging columella Goiter Leukopenia Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Renal hypoplasia Increased circulating gonadotropin level Misalignment of teeth Protruding ear Upslanted palpebral fissure Pallor Feeding difficulties in infancy Intellectual disability, moderate Joint laxity Anxiety Hydronephrosis Conductive hearing impairment Pes planus Hypertriglyceridemia Hypertrichosis Shuffling gait Hypospadias Kyphosis Atrial septal defect Ventricular septal defect Nephrolithiasis High palate Accelerated skeletal maturation Long neck Multinodular goiter Chronic lung disease Increased CSF lactate



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