Frontal bossing, and Dysphagia

Diseases related with Frontal bossing and Dysphagia

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

Top matches:

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005).This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Genetic HeterogeneitySee also GBBB2 (OMIM ), caused by mutation in the SPECC1L gene (OMIM ) on chromosome 22q11.

OPITZ GBBB SYNDROME, TYPE I; GBBB1 Is also known as opitz bbbg syndrome, type i|opitz syndrome|os|opitz syndrome, x-linked|ogs1|hypertelorism-hypospadias syndrome|osx|telecanthus-hypospadias syndrome|opitz gbbb syndrome, x-linked|bbbg1|hypertelorism with esophageal abnormality and hypospadias|opitz-g syndr

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE I; GBBB1

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Other less relevant matches:

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

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

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

High match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Cognitive impairment Anteverted nares Hearing impairment Low-set ears Scoliosis Downslanted palpebral fissures Dysarthria Respiratory insufficiency Failure to thrive Wide nasal bridge Prominent forehead Hypoplasia of the corpus callosum Epicanthus Hyperreflexia Hypothyroidism Autistic behavior Sensorineural hearing impairment Anxiety Muscular hypotonia Delayed speech and language development Feeding difficulties Short stature Constipation Abnormality of the skeletal system EEG abnormality Osteopenia Myopia Spasticity Generalized hypotonia Smooth philtrum Ventricular septal defect Oral-pharyngeal dysphagia Growth delay Hepatomegaly Wide mouth Sleep disturbance Muscle weakness Nystagmus

Rare Symptoms - Less than 30% cases

Dental malocclusion Hydrocephalus Leukodystrophy Bilateral sensorineural hearing impairment Pigmentary retinopathy Peripheral demyelination Tetraplegia Abnormality of the cerebral white matter Neurological speech impairment Retinopathy Developmental regression Neonatal hypotonia Macrocephaly Respiratory failure Ptosis Brachycephaly Babinski sign Blindness Vomiting Gait disturbance Diabetes mellitus Cerebral calcification Aqueductal stenosis Dysphasia Hypopigmentation of the skin Hypopigmentation of hair Hypertension Abnormality of the dentition Sleep apnea Dysmetria Motor delay Brachydactyly Skeletal muscle atrophy Midface retrusion Triangular face Clinodactyly Apnea Genu valgum Kyphosis Autism Intellectual disability, mild Short foot Emotional lability Gliosis Micrognathia Microcephaly Speech apraxia Chronic otitis media Prominent nose Joint hypermobility Clonus Cough Trigonocephaly Mandibular prognathia Craniosynostosis Failure to thrive in infancy Difficulty walking Pneumonia Coarse facial features Hypodontia Hyperactivity Splenomegaly Flexion contracture Cleft palate Behavioral abnormality Cryptorchidism Syndactyly Depressed nasal bridge Pectus excavatum Abnormal heart morphology Abnormality of cardiovascular system morphology Abnormality of the pharynx Thick lower lip vermilion Drooling Gastroesophageal reflux Short neck Agenesis of corpus callosum Self-injurious behavior Weight loss Hyperhidrosis Dementia Depressivity Hyporeflexia Bowel incontinence Absent speech Tremor Progressive spasticity Muscle fibrillation Precocious puberty Hyperlordosis Facial palsy Amenorrhea Leukoencephalopathy Abnormal autonomic nervous system physiology Dysphonia Muscle stiffness Diplopia Diarrhea Hypotension Encephalitis Ataxia Chorea Sudden cardiac death Abnormality of eye movement Nausea and vomiting Abnormal pyramidal sign Posterior pharyngeal cleft Hyperextensible hand joints Hyperplasia of midface Psychosis Slurred speech Spastic paraparesis Hoarse voice Joint stiffness Spastic gait Hallucinations Progressive muscle weakness Lower limb spasticity Choreoathetosis Overgrowth Aggressive behavior Specific learning disability Synophrys Abnormal cerebellum morphology Thick eyebrow Distal amyotrophy Hirsutism Lower limb muscle weakness Paraplegia Abnormality of the foot Abnormality of the hand Impaired vibratory sensation Drowsiness Mood swings Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Abnormality of the nares Overbite Upper limb spasticity Hammertoe Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Scleroderma Ankle clonus Spastic diplegia Atrophy/Degeneration affecting the brainstem Hypothermia Increased CSF protein High, narrow palate Cone-shaped epiphysis Increased intracranial pressure Hypopigmented skin patches Acanthosis nigricans Plagiocephaly Low anterior hairline Bradycardia Epidermal acanthosis Febrile seizures Short palm Tracheoesophageal fistula Abnormal cardiac septum morphology Proptosis Malar flattening Elevated intracellular cystine Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Retinal pigment epithelial mottling Corneal crystals Radial deviation of finger Short middle phalanx of finger Generalized aminoaciduria Lambdoidal craniosynostosis Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Abnormality of the head Broad hallux Anterior plagiocephaly Oxycephaly Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Tarsal synostosis Hypermelanotic macule Renal Fanconi syndrome Primary hypothyroidism Poor coordination Diffuse demyelination of the cerebral white matter Delayed puberty Proteinuria Photophobia Hypogonadism Delayed skeletal maturation Cerebral atrophy Renal insufficiency Myopathy Fever Microcoria Stage 5 chronic kidney disease Hyperpigmented nevi Recurrent singultus Progressive macrocephaly Pseudobulbar signs Large face Hypersomnia Bulbar signs Camptodactyly Megalencephaly Confusion Abnormality of skin pigmentation Hypophosphatemic rickets Glycosuria Recurrent corneal erosions Decreased plasma carnitine Male hypogonadism Heat intolerance Preeclampsia Flushing Microscopic hematuria Exocrine pancreatic insufficiency Male infertility Polyuria Generalized muscle weakness Hyponatremia Rickets Metaphyseal widening Polydipsia Chronic kidney disease Hypohidrosis Nephrolithiasis Progressive neurologic deterioration Dehydration Memory impairment Spastic paraplegia Cerebellar atrophy Hydronephrosis Pruritus Otitis media Pectus carinatum Lymphoma Asthma Recurrent fractures Wide nose Anal atresia Facial asymmetry Cleft upper lip Inflammatory abnormality of the skin Skin rash Oral cleft Erythema Deeply set eye Osteoporosis Intestinal malrotation Recurrent infections Immunodeficiency Ambiguous genitalia Eczema Sinusitis Recurrent urinary tract infections Recurrent bronchitis Persistence of primary teeth Decrease in T cell count Red hair Increased IgE level Recurrent sinopulmonary infections Verrucae Hemihypertrophy Chronic mucocutaneous candidiasis Atopic dermatitis Skin ulcer Recurrent sinusitis Bronchitis Squamous cell carcinoma Cleft lip Urticaria Recurrent skin infections Eosinophilia Recurrent bacterial infections Hemivertebrae Congenital diaphragmatic hernia Diffuse hepatic steatosis Fractures of the long bones Abnormality of metabolism/homeostasis Hydrocele testis Elevated hepatic transaminase Widow's peak Pulmonary artery atresia Volvulus Polydactyly Myoclonus Chylothorax Dystonia Irritability Hypertonia Right aortic arch Intellectual disability, severe Abnormality of the nasopharynx Intestinal lymphangiectasia Optic atrophy Bladder exstrophy Recurrent aspiration pneumonia Exstrophy Bilateral cleft lip and palate Aspiration pneumonia No social interaction Large fontanelles Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Abnormal electroretinogram Intellectual disability, progressive Spastic tetraplegia Bilateral cleft lip Aspiration Generalized-onset seizure Abnormality of the voice Increased number of teeth Brain atrophy Prominent metopic ridge Retinal degeneration Double outlet right ventricle Severe global developmental delay B lymphocytopenia Recurrent fungal infections Kyphoscoliosis Long philtrum Long face Astigmatism Dilated cardiomyopathy Protruding ear Intellectual disability, moderate High forehead Upslanted palpebral fissure Thrombocytopenia Dysostosis multiplex Highly arched eyebrow Ventriculomegaly Visual impairment Receptive language delay Central sleep apnea Expressive language delay Prominent nasal tip Poor fine motor coordination Hypocholesterolemia Abnormal renal morphology Thick vermilion border Hip dysplasia Abnormality of chromosome segregation Growth abnormality Gait ataxia Pes cavus Hypertrichosis Chronic diarrhea Osteoma Progressive hearing impairment Recurrent upper respiratory tract infections Coarse hair Periventricular gray matter heterotopia Mitral regurgitation Single median maxillary incisor Colpocephaly Increased mean corpuscular volume Abnormal hair pattern Biparietal narrowing Proximal placement of thumb Optic nerve hypoplasia Pointed chin Preauricular skin tag Asymmetric septal hypertrophy Echolalia T-cell lymphoma Impaired neutrophil chemotaxis Hernia Low-set, posteriorly rotated ears Hypospadias Patent ductus arteriosus Posteriorly rotated ears Abnormal facial shape Thin upper lip vermilion Telecanthus Squamous cell carcinoma of the vulva Feeding difficulties in infancy Anal canal squamous carcinoma Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis Abnormality of the kidney Attention deficit hyperactivity disorder Bipolar affective disorder Patent foramen ovale Poor eye contact High hypermetropia Heparan sulfate excretion in urine Open bite Abnormality of dental morphology Thickened ribs Language impairment Ovoid thoracolumbar vertebrae Cellular metachromasia Infantile muscular hypotonia Broad forehead Hypercholesterolemia Stereotypy Dental crowding Abnormality of the cardiovascular system Delayed myelination Bifid uvula Hypoplasia of the maxilla Hypermetropia Small for gestational age Thimble-shaped middle phalanges of hand


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