Depressed nasal bridge, and Babinski sign

Diseases related with Depressed nasal bridge and Babinski sign

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Babinski sign that can help you solving undiagnosed cases.

Top matches:

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014).

LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME Is also known as lethal neonatal rigidity-multifocal seizure syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL NEONATAL SPASTICITY-EPILEPTIC ENCEPHALOPATHY SYNDROME

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:

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

High match DPM1-CDG

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).

SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50 Is also known as cerebral palsy, spastic quadriplegic, 3, formerly|cpsq3, formerly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE; SPG50

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Babinski sign

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Babinski sign. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability, severe

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Micrognathia Flexion contracture Hyperreflexia Hypertelorism Coarse facial features Muscular hypotonia Hepatomegaly Abnormal facial shape Motor delay Cerebellar atrophy Splenomegaly Retinal degeneration Osteopenia Wide nasal bridge Sensorineural hearing impairment Hypertonia Strabismus Abnormal pyramidal sign Growth delay Scoliosis Short stature Hearing impairment Recurrent respiratory infections Talipes equinovarus Hypoplasia of the corpus callosum Severe global developmental delay Feeding difficulties Pectus carinatum Prominent forehead Cerebral atrophy Kyphosis Gait disturbance Epicanthus Spastic tetraplegia Tetraplegia Hepatosplenomegaly Ataxia Corneal opacity Delayed speech and language development Cognitive impairment Coxa valga Wide mouth Retinopathy Progressive neurologic deterioration Neonatal hypotonia Knee flexion contracture Lumbar hyperlordosis Macroglossia Short philtrum Respiratory insufficiency Nystagmus Intellectual disability, progressive Anteverted nares Genu valgum Delayed myelination Hip dysplasia Congestive heart failure Hypertension Cardiomyopathy Frontal bossing High palate Elevated hepatic transaminase Kyphoscoliosis Inability to walk Widely spaced teeth Heart murmur Skeletal dysplasia Inguinal hernia Dysostosis multiplex Hernia Abnormality of the gingiva Umbilical hernia Low-set ears Neurodegeneration Gliosis Downslanted palpebral fissures Abnormality of the cerebral white matter Increased intracranial pressure Narrow forehead Short neck Macrocephaly Abnormality of the skeletal system Apnea EEG abnormality Absent speech Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Hypertrichosis Febrile seizures Chronic otitis media Gingival overgrowth Abnormality of mucopolysaccharide metabolism Abnormality of lysosomal metabolism Flat occiput Otitis media Long philtrum Thickened calvaria Postnatal microcephaly Hydrocele testis Pneumonia Protruding tongue Abnormal cornea morphology Abnormality of glycosaminoglycan metabolism Abnormality of the tonsils Cerebral palsy Edema Prominent supraorbital ridges Short palm High, narrow palate Abnormality of joint mobility Increased size of nasopharyngeal adenoids Broad nasal tip Dermatan sulfate excretion in urine Progressive visual loss Camptodactyly of finger Nyctalopia Dolichocephaly Carious teeth Synophrys Arthropathy Abnormal heart valve morphology Hirsutism Wide nose Thick vermilion border Sleep disturbance Asthma Limitation of joint mobility Microdontia Joint stiffness Cardiomegaly Abnormality of the ribs Recurrent otitis media Abnormal form of the vertebral bodies Thickened skin Restrictive ventilatory defect Abnormal vertebral morphology Multiple joint contractures Toe walking Elbow flexion contracture Generalized hirsutism Abnormality of dental enamel Opacification of the corneal stroma Craniosynostosis Conductive hearing impairment Severe short stature Metatarsus adductus Pes planus Urinary glycosaminoglycan excretion Hernia of the abdominal wall Heparan sulfate excretion in urine J-shaped sella turcica Hip subluxation Everted lower lip vermilion Abnormal nerve conduction velocity Abnormal diaphysis morphology Myelopathy Sagittal craniosynostosis Flared iliac wings Cor pulmonale Thoracic scoliosis Spinal canal stenosis Communicating hydrocephalus Tracheal stenosis Diastasis recti Obstructive sleep apnea Peripheral visual field loss Diarrhea Headache Constipation Pes cavus Abdominal pain Glaucoma Protuberant abdomen Proptosis Rhinitis Dental malocclusion Back pain Myopathy Muscular hypotonia of the trunk Bulbous nose Lumbar kyphosis Paraplegia Spastic paraplegia Hydrocephalus Encephalopathy Myoclonus Macrotia Depressivity Midface retrusion Recurrent infections Dry skin Brachycephaly Dystonia Brain atrophy Myopia Failure to thrive Malar flattening Cerebral visual impairment Intellectual disability, mild Clonus Behavioral abnormality Cataract Dysarthria Skeletal muscle atrophy Vacuolated lymphocytes Visual impairment Rigidity Pain Posteriorly rotated ears Peripheral demyelination Developmental regression Hypermetropia Dysmetria Neurological speech impairment Platyspondyly Generalized myoclonic seizures Thick eyebrow Spastic paraparesis Mental deterioration Gait ataxia Mandibular prognathia Everted upper lip vermilion Facial hypotonia Muscle weakness Blindness Platybasia Delayed tarsal ossification Broad ischia Cervical subluxation Wide cranial sutures Flaring of rib cage Cervical kyphosis Carpal bone hypoplasia Mandibular condyle hypoplasia Nasal obstruction Peripheral edema Corneal crystals Optic nerve compression Abnormality of the radius Hypoplasia of the femoral head Cervical instability Delayed menarche Calcification of falx cerebri Progressive flexion contractures Thickened ribs C1-C2 subluxation Abnormality of the pubic bone Aortic valve calcification Abnormality of the acetabulum Enlarged tonsils Mitral valve calcification Frontal hirsutism Hypoplastic cervical vertebrae Abnormality of the optic disc Abnormal CNS myelination Recurrent ear infections Chronic sinusitis Shield chest Acetabular dysplasia Delayed ossification of the hand bones Waddling gait Hyperactive deep tendon reflexes Open mouth Abnormality of the periventricular white matter Genu recurvatum Excessive salivation Aspiration Abnormality of premolar morphology Drooling Infantile muscular hypotonia Adducted thumb Exertional dyspnea Progressive spasticity Aspiration pneumonia Abnormality of dental morphology Pseudobulbar signs Abnormal mandibular ramus morphology Abnormal mandible coronoid process morphology Thick skull base Sparse axillary hair Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Dilation of lateral ventricles Sparse pubic hair Broad ribs Bullet-shaped phalanges of the hand Broad long bone diaphyses Stiff interphalangeal joints Abnormality of the ulna Hypoplastic iliac wing Abnormality of the wing of the ilium Spinal cord compression Limited shoulder movement Papilledema Blepharitis Abnormality of the tympanic membrane Short mandibular rami Abnormality of the middle ear ossicles Thoracolumbar kyphoscoliosis Short clavicles Abnormality of the respiratory system Gingivitis Abnormality of the clavicle Anterior open bite Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Palpebral edema Hypoplasia of the odontoid process Coronary artery atherosclerosis Large earlobe Flared metaphysis Stridor Language impairment Meckel diverticulum Hemiplegia Recurrent upper respiratory tract infections Hyperammonemia Sleep apnea Corneal dystrophy Progressive hearing impairment Beaking of vertebral bodies Upper airway obstruction Coxa vara Constrictive median neuropathy Diaphyseal thickening Retinal fold Delayed ossification of carpal bones Chronic rhinitis Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Hypoplasia of teeth Abnormal aortic valve morphology Biconcave vertebral bodies Endocardial fibroelastosis Difficulty standing Seborrheic dermatitis Mucopolysacchariduria Abnormal mitral valve morphology Coarse hair Foam cells Conical tooth Angina pectoris Hypoplastic ilia Large face Sclerosis of skull base Aortic regurgitation Exotropia Calvarial hyperostosis Anterior scalloping of vertebral bodies Abnormality of the humeral epiphysis Atlantoaxial dislocation Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Abnormal hand morphology Widely patent coronal suture Enlargement of the wrists Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Abnormality of femoral epiphysis Visual loss Abnormal metaphyseal trabeculation Abnormality of the sella turcica Abnormality of the skull base Posterior scalloping of vertebral bodies Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Cervical myelopathy Vomiting Prominent sternum Abnormality of epiphysis morphology Abnormality of the cardiovascular system Long eyelashes Chronic diarrhea Left ventricular hypertrophy Decreased body weight Encephalocele Mitral regurgitation Split hand Myocardial infarction Interphalangeal joint contracture of finger Intellectual disability, profound Abnormality of the skin Arrhythmia Full cheeks Delayed eruption of teeth Abnormality of skin pigmentation Abnormality of eye movement Stroke Pallor Narrow pelvis bone Flared nostrils Dyspnea Large sella turcica Anterior rib cupping Pulmonary edema Hypogonadism Easy fatigability Decreased antibody level in blood Hallucinations Limb ataxia Amblyopia Tall stature Bowing of the long bones Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Progressive cerebellar ataxia Low anterior hairline Highly arched eyebrow Confusion Abnormality of the foot Broad forehead Respiratory tract infection Anxiety Arthritis Delayed skeletal maturation Areflexia Immunodeficiency Diffuse hepatic steatosis Spastic gait Narrow palate Abnormality of nervous system morphology Impaired smooth pursuit Retinal thinning Long ear Cranial hyperostosis Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Reduced ejection fraction Delusions Recurrent bacterial infections Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs No social interaction Tapetoretinal degeneration Synostosis of joints Psychomotor deterioration Status epilepticus Neuronal loss in central nervous system Epileptic encephalopathy Round face Thin vermilion border Upslanted palpebral fissure Decreased beta-galactosidase activity Sea-blue histiocytosis Progressive psychomotor deterioration Decerebrate rigidity Loss of ability to walk Visceromegaly Bradycardia Abnormality of the spleen Developmental stagnation Loss of speech Brisk reflexes Paraparesis Abnormality of the face Clumsiness Generalized muscle weakness Abnormality of the liver Renal insufficiency Fever Progressive microcephaly Abnormal autonomic nervous system physiology CNS demyelination Respiratory failure Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Inverted nipples Hand polydactyly Abnormal electroretinogram Leukodystrophy Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Hypodontia Irritability Polydactyly Abnormality of mitochondrial metabolism Abnormality of metabolism/homeostasis Dysphagia Uplifted earlobe Hypoplasia of the frontal lobes Multifocal seizures Myoclonic spasms Limb joint contracture Mild microcephaly Muscle fibrillation Dysphasia Global brain atrophy Cerebral dysmyelination Oligosacchariduria Arnold-Chiari malformation Growth hormone deficiency Epiphyseal dysplasia Abnormality of the hand Abnormal dermatoglyphics Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cardiac arrest Short toe Short phalanx of finger Low posterior hairline Hypotelorism Short metacarpal Spastic diplegia Hypoplasia of the maxilla Microcornea Polyneuropathy Polymicrogyria Peripheral axonal neuropathy Talipes Congenital cataract Postnatal growth retardation Hyperlordosis Feeding difficulties in infancy Low-set, posteriorly rotated ears Bilateral cryptorchidism Prematurely aged appearance Joint laxity Hyperkeratosis Abnormality of the metacarpal bones Congenital hip dislocation Short ribs Aortic valve stenosis Abnormality of retinal pigmentation Lower limb spasticity Astigmatism Lower limb muscle weakness Limb muscle weakness Arthralgia Retrognathia Slender ulna Ulnar deviation of finger Prominent nipples Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Intellectual disability, moderate Micropenis Spondylolysis Tremor Intention tremor Nail dysplasia Small hand Smooth philtrum Muscular dystrophy Prominent nasal bridge Camptodactyly Abnormality of the eye Elevated serum creatine phosphokinase Patent ductus arteriosus Respiratory distress Spinocerebellar tract disease in lower limbs Decreased liver function Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Telangiectasia Truncal ataxia Cerebral cortical atrophy Type I transferrin isoform profile Hyporeflexia Pectus excavatum Microphthalmia Peripheral neuropathy Cryptorchidism Reduced protein S activity Reduced protein C activity Reduced antithrombin III activity Abnormal macular morphology Hypoglycosylation of alpha-dystroglycan Pontocerebellar atrophy Abnormal myelination Venous thrombosis Prolonged partial thromboplastin time Deep venous thrombosis Upper limb undergrowth Ankle contracture Weak cry Lower limb hyperreflexia Increased variability in muscle fiber diameter Trigonocephaly Poor suck Abnormality of vision Hemangioma Wide nasal ridge


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