Frontal bossing, and Gliosis

Diseases related with Frontal bossing and Gliosis

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

Top matches:

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

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

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Other less relevant matches:

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Top 5 symptoms//phenotypes associated to Frontal bossing and Gliosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Frontal bossing and Gliosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Spasticity

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy Micrognathia Peripheral demyelination Cerebellar atrophy Motor delay Ataxia Hearing impairment Hydrocephalus Ventriculomegaly Hyperreflexia Cataract Growth delay Microcephaly Skeletal muscle atrophy Dysarthria Epicanthus Muscle weakness Failure to thrive Abnormality of the cerebral white matter Scoliosis Strabismus Pectus excavatum Cognitive impairment Hypoplasia of the corpus callosum Constipation Muscular hypotonia High palate Neuronal loss in central nervous system Spastic tetraplegia Tetraparesis Dysmetria Optic atrophy Kyphosis Osteopenia Abnormal cerebellum morphology Kyphoscoliosis Visual loss Flexion contracture Severe global developmental delay Pain Intellectual disability, mild Low-set ears Hypothyroidism Delayed speech and language development EEG abnormality Long philtrum Brachydactyly Short nose Abnormal facial shape Downslanted palpebral fissures Abnormality of the skeletal system Feeding difficulties

Rare Symptoms - Less than 30% cases

Joint hypermobility Myopia Sleep disturbance Psychosis Overgrowth Abnormality of the foot Myopathy Abnormality of the dentition Genu valgum Hallucinations Anxiety Immunodeficiency Recurrent infections Gait ataxia Spastic tetraparesis Babinski sign Midface retrusion Behavioral abnormality Dysphagia Megalencephaly Papule Abnormality of the sternum Spastic gait Muscle stiffness Dilatation Hypotension Talipes equinovarus Cerebral calcification Hepatomegaly Depressed nasal bridge Skin tags Neurological speech impairment Progressive macrocephaly Ovarian carcinoma Bowel incontinence Astrocytoma Fibroma Hamartomatous polyposis Nausea and vomiting Delayed skeletal maturation Clonus Exotropia Drooling Emotional lability Cerebral dysmyelination Hammertoe Palmoplantar keratoderma Scaphocephaly Neoplasm of the skin Facial palsy Melanocytic nevus Polymicrogyria Tremor Gait disturbance Short neck Depressivity Retrognathia Feeding difficulties in infancy Carcinoma Short stature Encephalopathy Neurodegeneration Long face Abnormal pyramidal sign Developmental regression Mental deterioration Prominent forehead Dementia Areflexia Mandibular prognathia Visual impairment Full cheeks Brain atrophy Increased intracranial pressure Decreased antibody level in blood Xanthine nephrolithiasis Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Increased urinary taurine Hypouricemia Myoclonic spasms Lens luxation Axonal loss Opisthotonus Ectopia lentis Hydrocele testis Tetraplegia Thick vermilion border Progressive neurologic deterioration Coarse facial features Neoplasm Corpus callosum atrophy Macroglossia Decreased nerve conduction velocity Choreoathetosis Delayed myelination Abnormal echocardiogram Abnormal cornea morphology Narrow nose Synovitis Medulloblastoma Sprengel anomaly Thoracic scoliosis Colitis Vertebral fusion Craniofacial hyperostosis Agenesis of permanent teeth Thoracolumbar kyphosis Spinocerebellar tract disease in lower limbs Long fingers Basal cell carcinoma Vacuolated lymphocytes Cranial hyperostosis Abnormality of the gingiva Abnormality of the rib cage Fragile nails Dysostosis multiplex Microphthalmia Ulcerative colitis Brain neoplasm Broad face Brachycephaly Neoplasm of the endocrine system Abdominal pain Abnormality of the neck Short 4th metacarpal Syndactyly Glaucoma Abnormality of the helix Wide nasal bridge Cryptorchidism Reduced ejection fraction Cleft palate Milia Spondylolisthesis Down-sloping shoulders Polydactyly Flattened moderately deformed vertebrae Impaired smooth pursuit Increased hepatic glycogen content Abnormality of dental structure Spondylolysis Cleft upper lip Arachnodactyly Increased vertebral height Carious teeth Hypotrichosis Antineutrophil antibody positivity Proteinuria Progressive joint destruction Coloboma Telecanthus Generalized abnormality of skin Sparse hair Decreased pulmonary function Abnormality of joint mobility Hypoplastic inferior ilia Cleft lip Abnormality of the ilium Oral cleft Iris coloboma Proptosis Hypogonadotrophic hypogonadism Disproportionate tall stature Inflammation of the large intestine Long ear Nephritis Glomerulonephritis Relative macrocephaly Retinal thinning Spina bifida occulta Hemivertebrae Short ribs Postaxial polydactyly Spina bifida Bradycardia Hyperpigmentation of the skin Synovial hypertrophy Hemiparesis Abnormality of the ribs Nevus Synostosis of joints Oligosacchariduria Ectopic calcification Hemangioma Supernumerary ribs Long penis Intestinal polyp Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Cellular immunodeficiency Varicocele Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Arteriovenous malformation Meningioma Prolactin excess Papilledema Abnormality of the vasculature Lipoma Hashimoto thyroiditis Renal cell carcinoma Thyroid adenoma Follicular thyroid carcinoma Thyroiditis Multiple trichilemmomata Abnormality of the cerebral cortex Abnormality of the cerebrum Small cerebral cortex Profound global developmental delay Cortical gyral simplification Choanal atresia Sloping forehead Arthrogryposis multiplex congenita Small for gestational age Prominent nasal bridge Intrauterine growth retardation Lobular carcinoma in situ Merkel cell skin cancer Endometrial carcinoma Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Colorectal polyposis Hodgkin lymphoma Ovarian neoplasm Cervical ribs Ovarian fibroma Intellectual disability, moderate Proximal muscle weakness Narrow mouth Autism Headache Diarrhea Atrial septal defect Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Leukemia Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Vertebral wedging Abnormality of the sense of smell Abnormality of the kidney Hypoplasia of the maxilla Hyperthyroidism Palmoplantar hyperkeratosis Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Goiter Lymphoma Breast carcinoma Melanoma Hypopigmented skin patches Patellar dislocation Cranial nerve paralysis Lymphopenia Gynecomastia Cafe-au-lait spot Chronic diarrhea Telangiectasia Subcutaneous nodule Broad thumb Intention tremor Delusions Bile duct proliferation Severe sensorineural hearing impairment Spastic diplegia Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Scleroderma Ankle clonus Impaired vibratory sensation Overbite Abnormality of the hand Slurred speech Spastic paraparesis Hoarse voice Progressive muscle weakness Lower limb spasticity Specific learning disability Prominent nose Short foot Distal amyotrophy Lower limb muscle weakness Mood swings Abnormality of the nares Spastic paraplegia Agenesis of corpus callosum Diplopia Amenorrhea Chorea Sudden cardiac death Abnormality of eye movement Cough Hyperlordosis Weight loss Respiratory failure Diabetes mellitus Hyperhidrosis Hyporeflexia Abnormality of brain morphology Vomiting Respiratory insufficiency Hypertension Ptosis Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Paraplegia Camptodactyly Abnormal autonomic nervous system physiology Absent urinary urothione Paralysis Muscular hypotonia of the trunk Cerebral cortical atrophy Abnormality of metabolism/homeostasis Dystonia Fever Peripheral neuropathy Diffuse cerebral atrophy Cardiorespiratory arrest Irritability Aldehyde oxidase deficiency Decreased urinary urate Generalized muscle weakness Increased urinary thiosulfate Reduced xanthine dehydrogenase activity Increased urinary sulfite Decreased urinary sulfate Sulfite oxidase deficiency Abnormal muscle tone Hemiplegia Poor head control Progressive microcephaly Deeply set eye Hypertonia Unsteady gait Parkinsonism Hydronephrosis Degeneration of the lateral corticospinal tracts Difficulty walking Pes cavus Clinodactyly Anteverted nares Cerebellar gliosis Hypothalamic hypothyroidism Autoamputation of digits Autoamputation Cerebellar cortical atrophy Spinal deformities EMG: chronic denervation signs Urinary retention Generalized myoclonic seizures Morphological abnormality of the pyramidal tract Lewy bodies Gangrene Abnormality of visual evoked potentials Keratoconjunctivitis sicca Diabetes insipidus Epiphora Keratitis Poor suck Severe muscular hypotonia Sensorimotor neuropathy Abnormality of extrapyramidal motor function Leukodystrophy Leukoencephalopathy Aseptic necrosis Umbilical hernia Highly arched eyebrow Thick eyebrow Retinal degeneration Confusion Hypermetropia Corneal opacity Broad forehead Pectus carinatum Respiratory tract infection Arthritis Hepatosplenomegaly Skeletal dysplasia Dental malocclusion Macrotia Recurrent respiratory infections Inguinal hernia Hernia Malar flattening Splenomegaly Intellectual disability, severe Sensorineural hearing impairment Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Progressive cerebellar ataxia Otitis media Chylous ascites Widely spaced teeth Limb dystonia Bronchitis Thickened calvaria Femoral bowing Neurodevelopmental delay Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Recurrent bacterial infections Hip dysplasia Narrow palate Low anterior hairline Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Hypertrichosis Depressed nasal ridge Pancytopenia Type II diabetes mellitus Optic disc pallor Renal cortical microcysts Cerebral hypoplasia Sleep apnea Bulbar signs Pneumonia Hypospadias Congestive heart failure Diffuse demyelination of the cerebral white matter Microcoria Hyperpigmented nevi Recurrent singultus Pseudobulbar signs Large face Hypersomnia Aqueductal stenosis Hypothermia Polyhydramnios Poor coordination Increased CSF protein Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Dysphasia Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Upslanted palpebral fissure High forehead Enterocolitis Large fontanelles Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Delayed cranial suture closure Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Progressive hearing impairment Aspiration Pachygyria Neonatal hypotonia Heterotopia Cholestasis Split hand Progressive visual loss Abdominal distention Ascites Renal cyst Hepatic steatosis Talipes Dolichocephaly Abnormality of the liver Elevated hepatic transaminase Abnormal neuron morphology


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